Variant report

Variant	rs6993964
Chromosome Location	chr8:119348323-119348324
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:119341376..119343834-chr8:119345796..119348597,3	MCF-7	breast:
2	chr8:119347457..119349643-chr8:119350580..119352155,2	MCF-7	breast:
3	chr8:119344779..119346281-chr8:119346898..119348552,2	K562	blood:

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10087006	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10102091	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10102185	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10102483	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10110149	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10481135	0.92[ASN][1000 genomes]
rs10955871	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11782250	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12155712	0.90[ASN][1000 genomes]
rs12156385	0.88[EUR][1000 genomes]
rs1385806	0.91[EUR][1000 genomes]
rs1385807	0.90[EUR][1000 genomes]
rs1545925	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1843535	0.89[EUR][1000 genomes]
rs2062425	0.92[EUR][1000 genomes]
rs2062426	0.92[EUR][1000 genomes]
rs28493856	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs28508414	0.91[EUR][1000 genomes]
rs28558308	0.89[EUR][1000 genomes]
rs34008405	0.86[EUR][1000 genomes]
rs34458847	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34727859	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35027398	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35246465	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35595491	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35812722	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3802185	0.89[EUR][1000 genomes]
rs4496996	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4571758	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4592080	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4593580	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4628280	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4876409	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6469731	0.90[EUR][1000 genomes]
rs6469732	0.90[EUR][1000 genomes]
rs6469733	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6469734	0.96[ASN][1000 genomes]
rs6980537	0.92[ASN][1000 genomes]
rs6980779	0.82[EUR][1000 genomes]
rs6983634	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6987634	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6988788	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6988804	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6991597	0.91[EUR][1000 genomes]
rs6993640	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6994852	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6996584	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6996602	0.95[ASN][1000 genomes]
rs7008800	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7009206	0.91[EUR][1000 genomes]
rs7010323	0.85[EUR][1000 genomes]
rs7013508	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7018387	0.86[ASN][1000 genomes]
rs71515964	0.91[EUR][1000 genomes]
rs7817627	0.91[EUR][1000 genomes]
rs7818835	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7819713	0.83[EUR][1000 genomes]
rs7820290	0.82[EUR][1000 genomes]
rs7820498	0.86[EUR][1000 genomes]
rs7823536	0.89[EUR][1000 genomes]
rs7823689	0.89[EUR][1000 genomes]
rs7827637	0.91[ASN][1000 genomes]
rs7828165	0.89[EUR][1000 genomes]
rs7828224	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7828542	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7831174	0.95[ASN][1000 genomes]
rs7831226	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7836216	0.87[EUR][1000 genomes]
rs7837752	0.85[EUR][1000 genomes]
rs7838723	0.85[EUR][1000 genomes]
rs7841049	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7841856	0.89[EUR][1000 genomes]
rs9642839	0.90[EUR][1000 genomes]
rs9694445	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv612047	chr8:118939094-119468609	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1015380	chr8:118948652-119418389	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv539736	chr8:118948652-119418389	Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1032681	chr8:119153316-119609948	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv539737	chr8:119153316-119609948	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
6	nsv1016379	chr8:119164234-119448910	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
7	nsv831442	chr8:119181675-119390122	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119323000-119357600	Weak transcription	Aorta	Aorta
2	chr8:119323000-119394000	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr8:119323800-119362400	Weak transcription	GM12878-XiMat	blood
4	chr8:119330800-119361000	Weak transcription	Pancreas	Pancrea
5	chr8:119344000-119366000	Weak transcription	Gastric	stomach
6	chr8:119345000-119351800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr8:119345600-119351600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr8:119345600-119355800	Weak transcription	Hela-S3	cervix
9	chr8:119345800-119349600	Weak transcription	HSMMtube	muscle
10	chr8:119346000-119351200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr8:119346000-119353200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr8:119346000-119353200	Weak transcription	NH-A	brain
13	chr8:119346000-119365800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr8:119346200-119349800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr8:119346200-119350200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr8:119346200-119351800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr8:119346200-119352000	Weak transcription	NHLF	lung
18	chr8:119346200-119355800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr8:119346400-119351400	Weak transcription	Lung	lung
20	chr8:119346400-119351600	Weak transcription	NHDF-Ad	bronchial
21	chr8:119346400-119352000	Weak transcription	A549	lung
22	chr8:119346600-119350800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr8:119346600-119351200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr8:119346600-119351400	Weak transcription	NHEK	skin
25	chr8:119346600-119353400	Weak transcription	HUVEC	blood vessel
26	chr8:119346800-119349800	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr8:119346800-119351400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr8:119348200-119359000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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