Variant report

Variant	rs6986359
Chromosome Location	chr8:91643162-91643163
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:91630484..91635085-chr8:91641096..91646066,7	K562	blood:
2	chr8:91637038..91640494-chr8:91640523..91644526,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254180	Chromatin interaction

Extended variants
information (count: 114 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:113)

rs_ID	r²[population]
rs10086401	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10086462	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10091275	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10103198	0.87[ASN][1000 genomes]
rs10112242	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10283086	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10808619	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10808620	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10956720	0.87[ASN][1000 genomes]
rs10956730	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10956736	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10956748	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10956749	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10956750	0.92[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11776824	0.90[ASN][1000 genomes]
rs11779312	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11784529	0.92[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12545279	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12545351	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12545726	0.83[EUR][1000 genomes]
rs12547016	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12548741	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12548806	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12680211	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]
rs13254212	0.88[ASN][1000 genomes]
rs13255452	0.91[CEU][hapmap];0.81[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs13262354	0.92[CEU][hapmap];0.86[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.89[TSI][hapmap];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13267237	0.80[ASN][1000 genomes]
rs13267989	0.87[ASN][1000 genomes]
rs13268594	0.88[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13277387	0.92[CEU][hapmap];0.86[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.85[TSI][hapmap]
rs13279222	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13279263	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1476427	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1476428	0.90[ASN][1000 genomes]
rs16905041	0.88[CEU][hapmap];0.86[CHB][hapmap];0.91[ASN][1000 genomes]
rs1858673	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1858674	0.92[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs2023624	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2023626	0.92[CEU][hapmap];0.86[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.85[TSI][hapmap];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2073640	0.92[CEU][hapmap];0.82[CHB][hapmap];0.92[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2105965	0.92[CEU][hapmap];0.82[CHB][hapmap];0.84[EUR][1000 genomes]
rs2105967	0.91[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2105968	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2157607	0.88[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2187981	0.90[ASN][1000 genomes]
rs2187982	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2205151	0.82[TSI][hapmap]
rs2205152	0.82[TSI][hapmap]
rs2213886	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2285231	0.84[EUR][1000 genomes]
rs2285232	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2285233	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34126139	0.86[ASN][1000 genomes]
rs35159732	0.81[EUR][1000 genomes]
rs35409073	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs36046037	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4140679	0.85[CEU][hapmap];0.85[CHB][hapmap];0.89[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4140680	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs4495386	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4495387	0.92[CEU][hapmap];0.81[CHB][hapmap];0.89[JPT][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4734237	0.90[EUR][1000 genomes]
rs4734250	0.85[CEU][hapmap];0.95[CHB][hapmap];0.94[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.81[MKK][hapmap];0.93[TSI][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4734266	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4734268	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4734269	0.92[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]
rs4735201	0.82[TSI][hapmap]
rs4735210	0.90[ASN][1000 genomes]
rs4735230	0.86[ASN][1000 genomes]
rs4735236	0.88[CEU][hapmap];0.90[CHB][hapmap];0.85[JPT][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4735256	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4735260	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4735268	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5005585	0.88[ASN][1000 genomes]
rs62526886	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6986001	0.96[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6986088	0.84[EUR][1000 genomes]
rs6986689	0.92[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6988733	0.83[EUR][1000 genomes]
rs6989123	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6998150	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6999898	0.96[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7000724	0.82[EUR][1000 genomes]
rs7004287	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7006279	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7007102	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7007129	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7008172	0.82[EUR][1000 genomes]
rs7008765	0.87[CEU][hapmap];0.86[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7012741	0.82[EUR][1000 genomes]
rs7013893	0.86[ASN][1000 genomes]
rs7014073	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7014967	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7016220	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7017295	0.82[TSI][hapmap]
rs715057	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7463641	0.83[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs756568	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs756569	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7812970	0.84[EUR][1000 genomes]
rs7817954	0.83[EUR][1000 genomes]
rs7819519	0.86[ASN][1000 genomes]
rs7823461	0.92[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs7826178	0.96[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7837109	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7837230	0.86[ASN][1000 genomes]
rs7840846	0.86[ASN][1000 genomes]
rs9297871	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9643298	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9643307	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9643308	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9693182	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9694450	0.84[EUR][1000 genomes];0.94[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:86 , 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	chr8:91624000-91654800	Weak transcription	Pancreas	Pancrea
3	chr8:91624200-91652200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr8:91624400-91644800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr8:91628200-91650400	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr8:91628600-91652000	Weak transcription	HUVEC	blood vessel
7	chr8:91629200-91650200	Weak transcription	Esophagus	oesophagus
8	chr8:91629200-91653400	Weak transcription	Ovary	ovary
9	chr8:91629200-91654600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr8:91629400-91645200	Weak transcription	NHDF-Ad	bronchial
11	chr8:91629600-91654400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr8:91630600-91649400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr8:91630600-91653600	Weak transcription	Fetal Intestine Small	intestine
14	chr8:91630600-91654200	Weak transcription	HSMMtube	muscle
15	chr8:91630600-91654400	Weak transcription	Fetal Muscle Leg	muscle
16	chr8:91630600-91655000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr8:91630600-91656800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr8:91630800-91652200	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr8:91630800-91654400	Weak transcription	Fetal Intestine Large	intestine
20	chr8:91631000-91654800	Weak transcription	NH-A	brain
21	chr8:91631200-91654400	Weak transcription	Psoas Muscle	Psoas
22	chr8:91632000-91656800	Weak transcription	Left Ventricle	heart
23	chr8:91632400-91652200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr8:91632600-91650200	Weak transcription	Right Atrium	heart
25	chr8:91632800-91654600	Weak transcription	Duodenum Mucosa	Duodenum
26	chr8:91633200-91652200	Weak transcription	NHLF	lung
27	chr8:91633800-91650400	Weak transcription	Adipose Nuclei	Adipose
28	chr8:91634200-91650400	Weak transcription	Fetal Lung	lung
29	chr8:91634800-91652200	Weak transcription	Hela-S3	cervix
30	chr8:91635200-91645200	Weak transcription	NHEK	skin
31	chr8:91635200-91647200	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr8:91636600-91647000	Weak transcription	K562	blood
33	chr8:91637600-91652200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr8:91638000-91645000	Weak transcription	HMEC	breast
35	chr8:91638000-91646600	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr8:91638200-91654800	Weak transcription	Placenta	Placenta
37	chr8:91638600-91645400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr8:91638600-91645400	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr8:91638600-91645400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr8:91638600-91645400	Weak transcription	HSMM	muscle
41	chr8:91638600-91647200	Weak transcription	Brain Angular Gyrus	brain
42	chr8:91638800-91651600	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr8:91639600-91650200	Weak transcription	HepG2	liver
44	chr8:91640000-91647200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr8:91640400-91650200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr8:91640800-91645200	Weak transcription	Brain Anterior Caudate	brain
47	chr8:91640800-91649000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr8:91640800-91654600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr8:91641000-91644000	Strong transcription	HUES6 Cell Line	embryonic stem cell
50	chr8:91641000-91648800	Weak transcription	Brain Cingulate Gyrus	brain

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