Variant report

Variant	rs7710527
Chromosome Location	chr5:108502493-108502494
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10040665	0.83[CHB][hapmap]
rs10076453	0.82[CHB][hapmap]
rs10515399	0.92[JPT][hapmap]
rs15402	0.83[ASN][1000 genomes]
rs17450476	0.83[CEU][hapmap]
rs4957793	0.92[JPT][hapmap]
rs6882759	0.92[JPT][hapmap]
rs7726922	0.82[JPT][hapmap]
rs7731193	0.90[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882693	chr5:108391660-108502493	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv882694	chr5:108391660-108524416	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	nsv1027163	chr5:108445447-108839913	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	esv2756048	chr5:108448101-108542101	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Age-related hearing impairment (interaction)	24939585	GWAS catalog

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:108468800-108521800	Weak transcription	Aorta	Aorta
2	chr5:108476000-108519200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr5:108476200-108506800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:108481600-108535000	Weak transcription	Left Ventricle	heart
5	chr5:108495200-108506200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr5:108496000-108532800	Weak transcription	Ovary	ovary
7	chr5:108497600-108508800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr5:108497800-108517400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr5:108498800-108512600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr5:108499000-108513200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr5:108500200-108527000	Weak transcription	HSMMtube	muscle
12	chr5:108501000-108521800	Weak transcription	Primary T cells from cord blood	blood
13	chr5:108502200-108502600	Enhancers	Psoas Muscle	Psoas
14	chr5:108502200-108522200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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