Region and Genes description
Region (hg19): chr2:135792491-136822774
Mappability (% of bases)
100% 		Transcription Factor Binding Sites Number of elements: 1608
SNPs in elements: 347
Distance to closest GAP 12.87 Mb ORegAnno Regulatory Elements Number of elements: 478
SNPs in elements: 3671
CpG Islands Number of elements: 0.341459248129642
SNPs in elements: 114 		Vista Enhancers Number of elements: 0
InvFEST inversions (% of bases)
0% 		PhyloP Evolutionary Conservation (% of bases ≥ 2)
3.6%
DGV Structural Variants (% of bases)
77.92% 		phastCons Evolutionary Conservation (% of bases)
7.05%
RepeatMasker (% of bases)
54.83% 		GERP Constrained Elements (% of bases ≥ 2)
11.16%
Segmental Duplications (% of bases)
0.37% 		Archaic Introgresion (% of bases)
95.49%
TRF Simple Tandem Repeats (% of bases)
1.93% 		Denisovan (% of bases)
10.86%
PopHuman HaploReg Ensembl Neanderthal (% of bases)
95.49%
Gene: ZRANB3 Information
Function zinc finger RANBP2-type containing 3 [Source:HGNC Symbol;Acc:HGNC:25249]
Gene ontology nucleic acid phosphodiester bond hydrolysis, metabolic process, DNA repair, cellular response to DNA damage stimulus, replication fork processing, DNA strand renaturation, response to UV, negative regulation of DNA recombination, replication fork protection, DNA rewinding
Links to external databases Ensembl    NCBI    Uniprot    UCSC

Expression Atlas    OMIM    OpenTargets    HumanMine
Gene: MAP3K19 Information
Function mitogen-activated protein kinase kinase kinase 19 [Source:HGNC Symbol;Acc:HGNC:26249]
Gene ontology protein phosphorylation, phosphorylation, regulation of apoptotic process, regulation of mitotic cell cycle, stress-activated protein kinase signaling cascade, signal transduction by protein phosphorylation, activation of protein kinase activity
Links to external databases Ensembl    NCBI    Uniprot    UCSC

Expression Atlas    OMIM    OpenTargets    HumanMine
Gene: RAB3GAP1 Information
Function RAB3 GTPase activating protein catalytic subunit 1 [Source:HGNC Symbol;Acc:HGNC:17063]
Gene ontology positive regulation of GTPase activity, hypothalamus development, regulation of GTPase activity, regulation of short-term neuronal synaptic plasticity, brain development, face morphogenesis, camera-type eye development, excitatory postsynaptic potential, establishment of protein localization to endoplasmic reticulum membrane, lipid particle organization, positive regulation of glutamate neurotransmitter secretion in response to membrane depolarization, positive regulation of protein lipidation, regulation of calcium ion-dependent exocytosis of neurotransmitter, positive regulation of endoplasmic reticulum tubular network organization
Links to external databases Ensembl    NCBI    Uniprot    UCSC

Expression Atlas    OMIM    OpenTargets    HumanMine
Gene: R3HDM1 Information
Function R3H domain containing 1 [Source:HGNC Symbol;Acc:HGNC:9757]
Gene ontology Non available
Links to external databases Ensembl    NCBI    Uniprot    UCSC

Expression Atlas    OMIM    OpenTargets    HumanMine
Gene: UBXN4 Information
Function UBX domain protein 4 [Source:HGNC Symbol;Acc:HGNC:14860]
Gene ontology response to unfolded protein, ubiquitin-dependent ERAD pathway
Links to external databases Ensembl    NCBI    Uniprot    UCSC

Expression Atlas    OMIM    OpenTargets    HumanMine
Gene: LCT Information
Function lactase [Source:HGNC Symbol;Acc:HGNC:6530]
Gene ontology carbohydrate metabolic process, metabolic process, polysaccharide digestion, glycosyl compound metabolic process
Links to external databases Ensembl    NCBI    Uniprot    UCSC

Expression Atlas    OMIM    OpenTargets    HumanMine
Gene: MCM6 Information
Function minichromosome maintenance complex component 6 [Source:HGNC Symbol;Acc:HGNC:6949]
Gene ontology DNA replication, DNA replication initiation, cell cycle, G1/S transition of mitotic cell cycle, DNA unwinding involved in DNA replication
Links to external databases Ensembl    NCBI    Uniprot    UCSC

Expression Atlas    OMIM    OpenTargets    HumanMine
Gene: DARS Information
Function aspartyl-tRNA synthetase [Source:HGNC Symbol;Acc:HGNC:2678]
Gene ontology tRNA aminoacylation for protein translation, aspartyl-tRNA aminoacylation, translation, macromolecular complex assembly
Links to external databases Ensembl    NCBI    Uniprot    UCSC

Expression Atlas    OMIM    OpenTargets    HumanMine
References
( Log in to add new references)		 Hollox et al 2000, Enattah et al 2002, Bersaglieri et al 2004, Nielsen et al 2005, International HapMap Consortium 2005, Voight et al 2006, Tishkoff et al 2006, International HapMap Consortium 2007, Sabeti et al 2007, Barreiro et al 2008, Johansson et al 2008, Ingram et al 2008, Higasa et al 2009, López Herráez et al 2009, Grossman et al 2010, Chen et al 2010, Chun et al 2011, Han et al 2012, Wagh et al 2012, Peter et al 2012, Grossman et al 2013, Liu et al 2013, Jones et al 2013, Johnson et al 2018


Recombination distribution

iHS


XP-EHH


Fu and Li's D


α LCT