Variant report

Variant	rs10776583
Chromosome Location	chr10:50779645-50779646
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10857506	0.81[EUR][1000 genomes]
rs10857507	0.80[CHB][hapmap]
rs10857510	0.81[EUR][1000 genomes]
rs11101155	0.81[EUR][1000 genomes]
rs11591393	0.82[EUR][1000 genomes]
rs1917820	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1917821	0.81[EUR][1000 genomes]
rs1949884	0.80[CHB][hapmap]
rs2177819	0.80[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs2229760	0.81[CEU][hapmap];0.89[TSI][hapmap]
rs2377900	0.81[EUR][1000 genomes]
rs3793784	0.82[CEU][hapmap]
rs4253038	0.81[TSI][hapmap]
rs4253234	0.82[CEU][hapmap]
rs7921810	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895375	chr10:50306386-51028871	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv534410	chr10:50317458-50826916	Weak transcription Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv831867	chr10:50607857-50788751	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	esv3346476	chr10:50610853-50987802	Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	esv3385048	chr10:50610942-50988537	Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10776583	ERCC6	cis	cerebellum	SCAN

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50775600-50780400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr10:50777200-50780200	Enhancers	HMEC	breast
3	chr10:50777800-50781200	Enhancers	Placenta Amnion	Placenta Amnion
4	chr10:50778000-50782600	Enhancers	Hela-S3	cervix
5	chr10:50778600-50780000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr10:50778800-50779800	Enhancers	Osteobl	bone
7	chr10:50778800-50780600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr10:50779000-50782000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr10:50779200-50780200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr10:50779200-50780200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr10:50779400-50780000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr10:50779400-50782200	Enhancers	Muscle Satellite Cultured Cells	--
13	chr10:50779400-50782400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr10:50779400-50782400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr10:50779600-50780000	Enhancers	NHEK	skin

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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