Variant report

Variant	rs12210317
Chromosome Location	chr6:149450724-149450725
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:149449802..149452277-chr6:149452682..149455002,2	K562	blood:
2	chr6:149449471..149451391-chr6:149458352..149459927,2	K562	blood:
3	chr6:149446259..149448351-chr6:149449784..149451618,2	MCF-7	breast:
4	chr6:149447328..149451282-chr6:149451738..149453433,3	K562	blood:
5	chr6:149438674..149441948-chr6:149450360..149452132,3	MCF-7	breast:

Extended variants
information (count: 105 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:102)

rs_ID	r²[population]
rs10457075	1.00[JPT][hapmap]
rs10457839	1.00[JPT][hapmap]
rs10457842	1.00[JPT][hapmap]
rs10499251	1.00[JPT][hapmap]
rs11155624	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11155626	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11155630	0.96[ASN][1000 genomes]
rs12153925	1.00[JPT][hapmap]
rs12189850	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12190751	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12195850	0.96[ASN][1000 genomes]
rs12196284	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12196893	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12197040	1.00[JPT][hapmap]
rs12200379	0.96[ASN][1000 genomes]
rs12200909	1.00[JPT][hapmap]
rs12202158	1.00[JPT][hapmap]
rs12203266	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12203302	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12203458	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12205636	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12206419	1.00[JPT][hapmap]
rs12206852	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12208882	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12208962	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12213636	0.96[ASN][1000 genomes]
rs12216095	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12216166	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13217006	1.00[JPT][hapmap]
rs17669546	1.00[JPT][hapmap]
rs1890610	1.00[JPT][hapmap]
rs1890612	1.00[JPT][hapmap]
rs1934221	1.00[JPT][hapmap]
rs1934222	1.00[JPT][hapmap]
rs2153251	1.00[JPT][hapmap]
rs2153252	1.00[JPT][hapmap]
rs2185250	1.00[JPT][hapmap]
rs35733790	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3949414	1.00[JPT][hapmap]
rs4073251	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4336467	1.00[JPT][hapmap]
rs4400235	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4454159	1.00[JPT][hapmap]
rs4470876	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4537169	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4579380	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs57241335	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs57369633	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs57471912	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs58638760	0.88[ASN][1000 genomes]
rs59828569	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6570923	1.00[JPT][hapmap]
rs6570924	1.00[JPT][hapmap]
rs6570926	1.00[JPT][hapmap]
rs6570927	1.00[JPT][hapmap]
rs6570932	1.00[JPT][hapmap]
rs6900527	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6901626	1.00[JPT][hapmap]
rs6909527	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6909624	1.00[JPT][hapmap]
rs6914281	1.00[JPT][hapmap]
rs6914318	1.00[JPT][hapmap]
rs6914925	1.00[JPT][hapmap]
rs6917010	1.00[JPT][hapmap]
rs6919190	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6919690	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6930713	1.00[JPT][hapmap]
rs6940664	1.00[JPT][hapmap]
rs6940915	1.00[JPT][hapmap]
rs72989962	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72989978	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72993821	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72993840	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73004281	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73004286	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73600091	0.96[ASN][1000 genomes]
rs73779024	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7743674	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7753909	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7754166	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7758462	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7761635	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7761698	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7762164	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7762928	1.00[JPT][hapmap]
rs7764138	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7766254	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7768166	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7773409	1.00[JPT][hapmap]
rs7774537	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7776204	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs9322165	1.00[JPT][hapmap]
rs9390657	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9485353	1.00[JPT][hapmap]
rs9498199	1.00[JPT][hapmap]
rs9498201	1.00[JPT][hapmap]
rs9498202	1.00[JPT][hapmap]
rs9498204	1.00[JPT][hapmap]
rs9498205	1.00[JPT][hapmap]
rs9498207	1.00[JPT][hapmap]
rs9918331	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9918332	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032319	chr6:149271433-149550525	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv538470	chr6:149271433-149550525	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1024776	chr6:149398652-149654593	Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:149447600-149454400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr6:149447800-149454200	Enhancers	Primary T helper cells fromperipheralblood	blood
3	chr6:149448000-149452600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr6:149448200-149452200	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr6:149448400-149451200	Enhancers	Primary T cells fromperipheralblood	blood
6	chr6:149448400-149452400	Enhancers	Primary hematopoietic stem cells	blood
7	chr6:149448400-149452400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr6:149448800-149452000	Enhancers	Primary T cells from cord blood	blood
9	chr6:149448800-149453600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
10	chr6:149448800-149454200	Enhancers	Placenta	Placenta
11	chr6:149449000-149452000	Enhancers	NHLF	lung
12	chr6:149449400-149451200	Enhancers	Primary B cells from peripheral blood	blood
13	chr6:149449400-149451600	Enhancers	GM12878-XiMat	blood
14	chr6:149449400-149452000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr6:149449600-149451000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr6:149449600-149452000	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr6:149449600-149452600	Enhancers	Fetal Lung	lung
18	chr6:149449800-149450800	Weak transcription	Primary B cells from cord blood	blood
19	chr6:149449800-149450800	Weak transcription	Fetal Kidney	kidney
20	chr6:149449800-149451000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr6:149449800-149451000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr6:149449800-149451000	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr6:149449800-149451800	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr6:149449800-149451800	Enhancers	Hela-S3	cervix
25	chr6:149449800-149453600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr6:149449800-149454200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr6:149449800-149455600	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr6:149450000-149450800	Weak transcription	Pancreas	Pancrea
29	chr6:149450000-149451000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr6:149450000-149451000	Weak transcription	Liver	Liver
31	chr6:149450000-149451400	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr6:149450000-149451400	Weak transcription	Fetal Stomach	stomach
33	chr6:149450000-149452400	Weak transcription	Stomach Mucosa	stomach
34	chr6:149450000-149454400	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr6:149450000-149457000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr6:149450000-149461200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr6:149450200-149451600	Weak transcription	Fetal Thymus	thymus
38	chr6:149450200-149451600	Weak transcription	Lung	lung
39	chr6:149450200-149452600	Weak transcription	Gastric	stomach
40	chr6:149450200-149452600	Enhancers	Dnd41	blood
41	chr6:149450200-149453600	Weak transcription	Spleen	Spleen
42	chr6:149450200-149455800	Enhancers	K562	blood
43	chr6:149450200-149461200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr6:149450400-149450800	Weak transcription	Esophagus	oesophagus
45	chr6:149450400-149452000	Enhancers	Osteobl	bone
46	chr6:149450400-149452200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr6:149450600-149451200	Enhancers	HMEC	breast
48	chr6:149450600-149451400	Enhancers	NHEK	skin
49	chr6:149450600-149451600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr6:149450600-149451600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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