Variant report

Variant	rs12680211
Chromosome Location	chr8:91633434-91633435
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:91630912-91635780	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:91632919..91634479-chr8:91696741..91698675,2	MCF-7	breast:
2	chr8:91623473..91626403-chr8:91632534..91634782,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254180	TF binding region

Extended variants
information (count: 113 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:112)

rs_ID	r²[population]
rs10086401	0.87[ASN][1000 genomes]
rs10086462	0.81[ASN][1000 genomes]
rs10091275	0.87[ASN][1000 genomes]
rs10103198	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10112242	0.88[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10283086	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10504894	0.83[CEU][hapmap]
rs10808619	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10808620	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10956720	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10956730	0.81[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10956736	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10956748	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10956749	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10956750	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11776824	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11779312	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11784529	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12545279	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12545351	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12545726	0.85[EUR][1000 genomes]
rs12547016	0.87[ASN][1000 genomes]
rs12548741	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12548806	0.87[ASN][1000 genomes]
rs12678527	0.83[CEU][hapmap]
rs13254212	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13255452	0.95[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13262354	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13267237	0.80[ASN][1000 genomes]
rs13267989	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13268594	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13277387	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.95[TSI][hapmap]
rs13279222	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13279263	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1476427	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1476428	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16905041	0.84[CEU][hapmap];0.90[CHB][hapmap];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1858673	0.87[ASN][1000 genomes]
rs1858674	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2023624	0.91[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2023626	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2073640	0.96[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.98[TSI][hapmap];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2105965	0.96[CEU][hapmap];0.86[EUR][1000 genomes]
rs2105967	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2105968	0.81[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2157607	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2187981	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2187982	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2205151	0.84[TSI][hapmap]
rs2205152	0.83[CEU][hapmap];0.84[TSI][hapmap]
rs2213886	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2285231	0.86[EUR][1000 genomes]
rs2285232	0.87[ASN][1000 genomes]
rs2285233	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34126139	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35159732	0.95[EUR][1000 genomes]
rs35409073	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs36046037	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4140679	0.84[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs4140680	0.86[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4495386	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4495387	0.96[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4734250	0.81[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4734266	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4734268	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4734269	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4735201	0.83[CEU][hapmap];0.84[TSI][hapmap]
rs4735210	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4735230	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4735236	0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs4735256	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4735260	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4735268	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5005585	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62526886	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6986001	0.92[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6986088	0.86[EUR][1000 genomes]
rs6986359	0.88[CEU][hapmap];0.86[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.89[TSI][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6986689	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6988733	0.85[EUR][1000 genomes]
rs6989123	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6998150	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6999898	0.92[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7004287	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7006279	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7007102	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7007129	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7008765	0.91[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7013893	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7014073	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7014967	0.87[ASN][1000 genomes]
rs7016220	0.86[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs715057	0.88[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7463641	0.90[CHB][hapmap];0.89[JPT][hapmap];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs756568	0.87[ASN][1000 genomes]
rs756569	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7812970	0.86[EUR][1000 genomes]
rs7817954	0.85[EUR][1000 genomes]
rs7819519	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7823461	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7824376	0.83[CEU][hapmap]
rs7824511	0.83[CEU][hapmap]
rs7826178	0.92[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7837109	0.88[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7837230	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7840846	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9297871	0.87[ASN][1000 genomes]
rs9643298	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9643307	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9643308	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9693182	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9694450	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1827745	chr8:91623737-91660193	ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91620400-91652200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr8:91622400-91634600	Weak transcription	NHEK	skin
3	chr8:91624000-91654800	Weak transcription	Pancreas	Pancrea
4	chr8:91624200-91652200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr8:91624400-91644800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr8:91624600-91635000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr8:91627600-91634000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
8	chr8:91628200-91650400	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr8:91628400-91634000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr8:91628600-91652000	Weak transcription	HUVEC	blood vessel
11	chr8:91629000-91639800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr8:91629200-91638600	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr8:91629200-91639800	Weak transcription	Lung	lung
14	chr8:91629200-91650200	Weak transcription	Esophagus	oesophagus
15	chr8:91629200-91653400	Weak transcription	Ovary	ovary
16	chr8:91629200-91654600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr8:91629400-91635400	Weak transcription	A549	lung
18	chr8:91629400-91636000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr8:91629400-91637600	Weak transcription	Placenta	Placenta
20	chr8:91629400-91638400	Weak transcription	Liver	Liver
21	chr8:91629400-91638800	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr8:91629400-91640800	Weak transcription	Fetal Muscle Trunk	muscle
23	chr8:91629400-91645200	Weak transcription	NHDF-Ad	bronchial
24	chr8:91629600-91636600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr8:91629600-91637800	Weak transcription	HepG2	liver
26	chr8:91629600-91654400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr8:91630200-91633600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
28	chr8:91630200-91639200	Strong transcription	H1 Cell Line	embryonic stem cell
29	chr8:91630200-91642200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr8:91630400-91638000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr8:91630600-91633800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr8:91630600-91634400	Weak transcription	Fetal Stomach	stomach
33	chr8:91630600-91637200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr8:91630600-91642200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr8:91630600-91649400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr8:91630600-91653600	Weak transcription	Fetal Intestine Small	intestine
37	chr8:91630600-91654200	Weak transcription	HSMMtube	muscle
38	chr8:91630600-91654400	Weak transcription	Fetal Muscle Leg	muscle
39	chr8:91630600-91655000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr8:91630600-91656800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr8:91630800-91635000	Strong transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr8:91630800-91636400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr8:91630800-91636600	Strong transcription	K562	blood
44	chr8:91630800-91640000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr8:91630800-91640200	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr8:91630800-91640600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr8:91630800-91652200	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr8:91630800-91654400	Weak transcription	Fetal Intestine Large	intestine
49	chr8:91631000-91641000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr8:91631000-91654800	Weak transcription	NH-A	brain

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