Variant report

Variant	rs12527235
Chromosome Location	chr6:147665722-147665723
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:147664249..147666005-chr6:147673962..147676762,2	K562	blood:
2	chr6:147648442..147651274-chr6:147664737..147666741,2	MCF-7	breast:

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs1039083	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1039084	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1039085	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1039086	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1147844	0.81[EUR][1000 genomes]
rs1147845	0.84[ASN][1000 genomes]
rs1147846	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1147847	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12173905	0.93[ASN][1000 genomes]
rs12191720	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12199542	0.92[ASN][1000 genomes]
rs1221638	0.84[EUR][1000 genomes]
rs1496031	0.82[CEU][hapmap];0.84[CHB][hapmap];0.81[JPT][hapmap]
rs1496034	0.81[EUR][1000 genomes]
rs1992389	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2068111	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2218221	0.83[EUR][1000 genomes]
rs2328813	0.81[ASN][1000 genomes]
rs2502732	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2582924	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2582925	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2582929	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2786183	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2786184	0.81[EUR][1000 genomes]
rs2786185	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2786187	0.93[ASN][1000 genomes]
rs2786189	0.84[CHB][hapmap]
rs2850177	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2850178	0.82[EUR][1000 genomes]
rs486867	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4896904	0.83[CEU][hapmap];0.85[CHB][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4896906	0.85[ASN][1000 genomes]
rs4896907	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4896908	0.84[ASN][1000 genomes]
rs519630	0.92[EUR][1000 genomes]
rs533201	0.82[CEU][hapmap];0.81[EUR][1000 genomes]
rs556493	0.85[EUR][1000 genomes]
rs562417	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs566028	0.81[CEU][hapmap];0.83[CHB][hapmap];0.81[EUR][1000 genomes]
rs577877	0.85[ASN][1000 genomes]
rs580657	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs584456	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs588273	0.82[ASN][1000 genomes]
rs58987334	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs591355	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs597631	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs598038	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs614476	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs617975	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs618474	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs619626	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs620715	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62435617	0.93[ASN][1000 genomes]
rs62435630	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs633603	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs656728	0.84[CHB][hapmap]
rs657155	0.87[EUR][1000 genomes]
rs659399	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs664203	0.83[CEU][hapmap];0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs673944	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6928919	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6932613	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7739314	0.89[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7748995	0.80[EUR][1000 genomes]
rs7762087	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7765526	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7769576	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9373522	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9377048	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9390459	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9390460	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9390461	0.81[EUR][1000 genomes]
rs9390463	0.91[ASN][1000 genomes]
rs9399597	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9399598	0.82[CEU][hapmap];0.84[CHB][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9399599	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv886752	chr6:147443480-147729477	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv886753	chr6:147526508-147680291	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv470864	chr6:147539165-147709179	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv886754	chr6:147539165-147729477	Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv604840	chr6:147539165-147730324	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
6	esv1832155	chr6:147554900-147715464	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
7	nsv886755	chr6:147577646-147729477	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
8	nsv886756	chr6:147580697-147729477	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
9	nsv830839	chr6:147584914-147757264	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
10	nsv886757	chr6:147591022-147729477	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
11	nsv886758	chr6:147644505-147679631	Strong transcription Genic enhancers Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv1016430	chr6:147662541-147711882	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
13	nsv1022283	chr6:147663541-147700720	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:147584400-147684600	Weak transcription	Brain Angular Gyrus	brain
2	chr6:147607400-147707400	Weak transcription	Colon Smooth Muscle	Colon
3	chr6:147609800-147667000	Weak transcription	NHEK	skin
4	chr6:147610200-147700200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr6:147617400-147680200	Weak transcription	Small Intestine	intestine
6	chr6:147619200-147690200	Weak transcription	Fetal Heart	heart
7	chr6:147622600-147708200	Weak transcription	Psoas Muscle	Psoas
8	chr6:147625800-147667400	Weak transcription	Gastric	stomach
9	chr6:147626000-147687000	Weak transcription	Lung	lung
10	chr6:147626000-147700200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr6:147626200-147670200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr6:147626200-147684000	Weak transcription	Brain Hippocampus Middle	brain
13	chr6:147626200-147684000	Weak transcription	Fetal Muscle Trunk	muscle
14	chr6:147626200-147687200	Weak transcription	Fetal Muscle Leg	muscle
15	chr6:147626200-147707600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr6:147626400-147700000	Weak transcription	Brain Germinal Matrix	brain
17	chr6:147628000-147668000	Weak transcription	Aorta	Aorta
18	chr6:147628200-147687000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr6:147631400-147707200	Weak transcription	Hela-S3	cervix
20	chr6:147633800-147684400	Weak transcription	Ovary	ovary
21	chr6:147637000-147686800	Weak transcription	A549	lung
22	chr6:147642800-147705000	Weak transcription	HepG2	liver
23	chr6:147643600-147667000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr6:147643800-147680200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr6:147643800-147680200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr6:147643800-147680200	Weak transcription	Thymus	Thymus
27	chr6:147643800-147686800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr6:147644000-147669200	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr6:147644200-147704000	Weak transcription	GM12878-XiMat	blood
30	chr6:147644400-147679200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr6:147644400-147686600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr6:147644600-147684400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr6:147644800-147683600	Weak transcription	Fetal Brain Female	brain
34	chr6:147645200-147682000	Weak transcription	HMEC	breast
35	chr6:147645200-147715000	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr6:147645800-147685000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr6:147649000-147687200	Weak transcription	Right Ventricle	heart
38	chr6:147649000-147705000	Weak transcription	Fetal Brain Male	brain
39	chr6:147649600-147679800	Weak transcription	Rectal Smooth Muscle	rectum
40	chr6:147649600-147680200	Weak transcription	Fetal Intestine Small	intestine
41	chr6:147649600-147680200	Weak transcription	NHLF	lung
42	chr6:147649600-147684000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr6:147649600-147685200	Weak transcription	Fetal Lung	lung
44	chr6:147649600-147703800	Weak transcription	Fetal Stomach	stomach
45	chr6:147649600-147706000	Weak transcription	Fetal Kidney	kidney
46	chr6:147649600-147711800	Weak transcription	Colonic Mucosa	Colon
47	chr6:147649800-147666800	Weak transcription	Primary B cells from peripheral blood	blood
48	chr6:147649800-147667000	Weak transcription	Fetal Thymus	thymus
49	chr6:147649800-147667200	Weak transcription	NH-A	brain
50	chr6:147649800-147679400	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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