Variant report

Variant	rs1917822
Chromosome Location	chr10:50762747-50762748
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:50756033..50757654-chr10:50761828..50764703,2	K562	blood:
2	chr10:50760936..50763303-chr10:50765007..50767673,2	K562	blood:
3	chr10:50760373..50763303-chr10:50765007..50769387,4	K562	blood:
4	chr10:50760754..50763367-chr10:50770167..50772403,2	MCF-7	breast:

Extended variants
information (count: 44 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1012553	0.89[CHD][hapmap];0.81[JPT][hapmap]
rs10776579	0.91[ASN][1000 genomes]
rs10776580	0.92[ASN][1000 genomes]
rs10857503	0.83[ASN][1000 genomes]
rs10857505	0.93[ASN][1000 genomes]
rs11101153	0.82[ASN][1000 genomes]
rs11101154	0.83[ASN][1000 genomes]
rs11527799	0.83[ASN][1000 genomes]
rs11594945	0.89[CHD][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs12161717	0.93[ASN][1000 genomes]
rs12161719	0.93[ASN][1000 genomes]
rs12218455	0.83[ASN][1000 genomes]
rs12218602	0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs12413113	0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs17177703	0.93[ASN][1000 genomes]
rs17784189	0.93[ASN][1000 genomes]
rs1880679	0.93[ASN][1000 genomes]
rs1880680	0.93[ASN][1000 genomes]
rs1917799	0.89[CHD][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs2222638	0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs2228528	0.83[CHB][hapmap];0.89[CHD][hapmap];0.81[JPT][hapmap]
rs2377901	0.91[ASN][1000 genomes]
rs2889771	0.83[ASN][1000 genomes]
rs3750745	0.83[ASN][1000 genomes]
rs3763728	0.82[ASN][1000 genomes]
rs3793786	0.89[CHD][hapmap];0.81[JPT][hapmap]
rs3793788	0.83[CHB][hapmap];0.81[JPT][hapmap]
rs4012459	0.83[ASN][1000 genomes]
rs4253009	0.81[ASN][1000 genomes]
rs4253082	0.82[CHB][hapmap];0.82[CHD][hapmap];0.81[JPT][hapmap]
rs56002988	0.83[ASN][1000 genomes]
rs57761316	0.83[ASN][1000 genomes]
rs59219652	0.83[ASN][1000 genomes]
rs61288726	0.83[ASN][1000 genomes]
rs7072155	0.91[ASN][1000 genomes]
rs7082895	0.81[ASN][1000 genomes]
rs7100059	0.93[ASN][1000 genomes]
rs73315045	0.92[ASN][1000 genomes]
rs7477098	0.91[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1917822	ERCC6	cis	cerebellum	SCAN
rs1917822	ERCC6	cis	parietal	SCAN

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50757200-50763400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr10:50757400-50763000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr10:50757400-50763200	Enhancers	NHEK	skin
4	chr10:50757400-50763400	Enhancers	HMEC	breast
5	chr10:50760400-50763400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr10:50760400-50765600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr10:50760600-50767400	Weak transcription	HSMMtube	muscle
8	chr10:50761000-50764600	Weak transcription	NHDF-Ad	bronchial
9	chr10:50761400-50763200	Enhancers	Hela-S3	cervix
10	chr10:50761400-50764400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr10:50761400-50764400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr10:50761600-50765200	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr10:50761600-50770400	Weak transcription	HSMM	muscle
14	chr10:50761800-50764600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr10:50761800-50764600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr10:50762000-50764400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr10:50762000-50764400	Weak transcription	Osteobl	bone
18	chr10:50762400-50764600	Weak transcription	Muscle Satellite Cultured Cells	--

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