Variant report

Variant	rs6993630
Chromosome Location	chr8:122439662-122439663
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:122174198..122176101-chr8:122438175..122440772,2	MCF-7	breast:
2	chr8:122439583..122442142-chr8:122442320..122444003,2	MCF-7	breast:
3	chr8:122437593..122440678-chr8:122446025..122448409,3	MCF-7	breast:

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10087892	0.89[ASN][1000 genomes]
rs10090869	0.89[ASN][1000 genomes]
rs10092166	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10092755	0.89[ASN][1000 genomes]
rs10092962	0.89[ASN][1000 genomes]
rs10096193	0.89[ASN][1000 genomes]
rs10097288	0.92[ASN][1000 genomes]
rs10105986	0.95[CHB][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs10107596	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10110541	0.90[ASN][1000 genomes]
rs10111979	0.81[ASN][1000 genomes]
rs10112343	0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs10112349	0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1027034	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10481146	0.92[ASN][1000 genomes]
rs10956034	0.92[ASN][1000 genomes]
rs13265015	0.89[ASN][1000 genomes]
rs13272291	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1487160	0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1487172	0.92[ASN][1000 genomes]
rs1487173	0.92[ASN][1000 genomes]
rs1487175	0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1487176	0.90[ASN][1000 genomes]
rs1487177	0.90[ASN][1000 genomes]
rs1565033	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1565036	0.90[ASN][1000 genomes]
rs1976123	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2046569	0.98[ASN][1000 genomes]
rs2386120	0.92[ASN][1000 genomes]
rs2386121	0.89[ASN][1000 genomes]
rs2891902	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35332883	0.87[ASN][1000 genomes]
rs35443385	0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4579535	0.87[ASN][1000 genomes]
rs4871186	0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs4871188	0.89[ASN][1000 genomes]
rs4871190	0.80[ASN][1000 genomes]
rs5018304	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62526729	0.90[ASN][1000 genomes]
rs62528874	0.90[ASN][1000 genomes]
rs6469999	0.98[ASN][1000 genomes]
rs6980931	0.87[ASN][1000 genomes]
rs6984258	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6984809	0.98[ASN][1000 genomes]
rs6991327	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6991350	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6997172	0.98[ASN][1000 genomes]
rs7000858	0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs7004129	0.92[ASN][1000 genomes]
rs7004316	0.92[ASN][1000 genomes]
rs7006857	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7010627	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7016604	0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7017414	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7018045	0.92[ASN][1000 genomes]
rs7018175	0.92[ASN][1000 genomes]
rs7812749	0.90[ASN][1000 genomes]
rs7813851	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7825069	0.89[ASN][1000 genomes]
rs7825265	0.89[ASN][1000 genomes]
rs7825730	0.89[ASN][1000 genomes]
rs7828783	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7829040	0.90[ASN][1000 genomes]
rs7829146	0.90[ASN][1000 genomes]
rs7836451	0.87[ASN][1000 genomes]
rs7839775	0.89[ASN][1000 genomes]
rs7845914	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7846624	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9297641	0.98[ASN][1000 genomes]
rs970450	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831445	chr8:122336877-122509300	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1029597	chr8:122403995-122440174	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv465793	chr8:122405097-122452320	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
4	nsv612132	chr8:122405097-122452320	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
5	esv1847136	chr8:122411349-122445322	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
6	nsv891427	chr8:122411349-122472297	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
7	nsv525416	chr8:122425336-122445322	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
8	nsv527877	chr8:122426082-122472297	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
9	nsv1033501	chr8:122436332-122758651	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:122437000-122440000	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr8:122437600-122440200	Enhancers	Rectal Mucosa Donor 31	rectum
3	chr8:122438800-122442200	Enhancers	HepG2	liver
4	chr8:122439000-122440000	Enhancers	Fetal Lung	lung
5	chr8:122439200-122440000	Enhancers	Gastric	stomach
6	chr8:122439200-122440000	Enhancers	Pancreas	Pancrea
7	chr8:122439200-122440000	Enhancers	Rectal Mucosa Donor 29	rectum
8	chr8:122439200-122440000	Enhancers	Sigmoid Colon	Sigmoid Colon
9	chr8:122439400-122440200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr8:122439400-122442200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr8:122439600-122440000	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr8:122439600-122440200	Enhancers	Primary hematopoietic stem cells	blood
13	chr8:122439600-122440400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr8:122439600-122442400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr8:122439600-122442600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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