Variant report

Variant	rs6910252
Chromosome Location	chr6:2037632-2037633
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:2030064..2032046-chr6:2035936..2037834,2	K562	blood:
2	chr6:1604389..1605339-chr6:2037539..2038714,6	MCF-7	breast:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11242731	0.87[CEU][hapmap];0.90[JPT][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11758621	0.87[ASN][1000 genomes]
rs12206139	0.86[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12212324	1.00[CEU][hapmap];0.83[CHB][hapmap];0.98[CHD][hapmap];0.97[GIH][hapmap];0.86[JPT][hapmap];0.94[LWK][hapmap];0.91[MEX][hapmap];0.94[TSI][hapmap];0.90[YRI][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13218855	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1802	0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1969667	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1969668	0.85[ASN][1000 genomes]
rs2076916	0.83[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2875725	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35546016	0.92[ASN][1000 genomes]
rs4308609	0.81[ASN][1000 genomes]
rs4959164	0.90[CEU][hapmap];0.91[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4959620	0.92[ASW][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.92[GIH][hapmap];0.85[JPT][hapmap];0.94[LWK][hapmap];0.85[YRI][hapmap];0.92[ASN][1000 genomes]
rs4959629	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4959632	0.82[CEU][hapmap];0.86[CHB][hapmap];0.84[CHD][hapmap];0.82[JPT][hapmap];0.82[MEX][hapmap];0.94[TSI][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs501038	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs538391	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs628441	0.97[LWK][hapmap];0.83[MKK][hapmap];0.95[YRI][hapmap]
rs635234	0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6596868	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs668674	0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6909371	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6922565	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6938640	0.91[CEU][hapmap];0.91[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7751738	1.00[CEU][hapmap];0.87[CHB][hapmap];0.86[JPT][hapmap];0.89[TSI][hapmap];0.94[EUR][1000 genomes]
rs7771247	1.00[CEU][hapmap];0.87[CHB][hapmap];0.86[JPT][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7772545	0.91[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs9328080	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9378669	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9391942	0.87[CEU][hapmap];0.86[CHB][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9392349	0.91[ASN][1000 genomes]
rs9392351	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.94[LWK][hapmap];0.91[MEX][hapmap];0.92[TSI][hapmap];0.85[YRI][hapmap];0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9392366	0.95[CHB][hapmap];0.91[JPT][hapmap];0.80[ASN][1000 genomes]
rs9405537	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9405545	0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.82[TSI][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9503076	0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.84[MKK][hapmap];0.94[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9503080	0.91[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.94[TSI][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[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	nsv530548	chr6:1441421-2351608	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv931941	chr6:1768439-2246781	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv531295	chr6:1773436-2724986	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
4	nsv1032727	chr6:1900622-2064690	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv538095	chr6:1900622-2064690	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv883386	chr6:1910108-2122454	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv981098	chr6:2008599-2102267	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv527735	chr6:2028237-2097654	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv522608	chr6:2032259-2203888	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:2019800-2040000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:2022400-2042800	Weak transcription	Right Atrium	heart
3	chr6:2022400-2055600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr6:2022400-2080600	Weak transcription	Duodenum Mucosa	Duodenum
5	chr6:2029800-2040400	Weak transcription	Stomach Mucosa	stomach
6	chr6:2030000-2053600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr6:2030800-2038400	Weak transcription	Primary hematopoietic stem cells	blood
8	chr6:2031200-2039000	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr6:2031800-2041800	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr6:2032600-2038000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr6:2032600-2043400	Weak transcription	HSMM	muscle
12	chr6:2034200-2044400	Weak transcription	Primary B cells from cord blood	blood
13	chr6:2035200-2038200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr6:2035400-2038400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr6:2035600-2038600	Weak transcription	Pancreas	Pancrea
16	chr6:2035600-2052600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr6:2035800-2038400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr6:2036400-2039000	Enhancers	Fetal Kidney	kidney
19	chr6:2036600-2038000	Enhancers	Thymus	Thymus
20	chr6:2036800-2038200	Enhancers	Dnd41	blood
21	chr6:2037000-2038000	Enhancers	Primary T cells from cord blood	blood
22	chr6:2037000-2039400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr6:2037000-2043800	Enhancers	Fetal Thymus	thymus
24	chr6:2037200-2038400	Weak transcription	HepG2	liver
25	chr6:2037200-2039400	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr6:2037200-2039600	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr6:2037200-2039600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr6:2037200-2039600	Enhancers	Fetal Lung	lung
29	chr6:2037400-2038400	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr6:2037400-2039600	Enhancers	Primary T cells fromperipheralblood	blood
31	chr6:2037400-2039600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr6:2037400-2039800	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr6:2037600-2037800	Enhancers	Liver	Liver
34	chr6:2037600-2037800	Enhancers	Gastric	stomach
35	chr6:2037600-2038200	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr6:2037600-2038200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr6:2037600-2038400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr6:2037600-2038400	Enhancers	Primary T regulatory cells fromperipheralblood	blood

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