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: 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


Recombination distribution

iHS


XP-EHH


Fu and Li's D


α LCT