Variant report

Variant	rs11990636
Chromosome Location	chr8:67693467-67693468
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:67686536..67689318-chr8:67692823..67695508,2	MCF-7	breast:
2	chr8:67681220..67688516-chr8:67689197..67696665,8	MCF-7	breast:
3	chr8:67693005..67695249-chr8:67699704..67702616,2	K562	blood:
4	chr8:67686905..67692004-chr8:67692027..67695220,6	K562	blood:
5	chr8:67692976..67695060-chr8:67697151..67699264,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104205	Chromatin interaction

Extended variants
information (count: 116 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:115)

rs_ID	r²[population]
rs10504393	1.00[CEU][hapmap]
rs11985572	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11986831	1.00[CEU][hapmap]
rs11987280	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11987310	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11987311	1.00[CEU][hapmap]
rs11988213	1.00[CEU][hapmap]
rs11988465	0.84[ASN][1000 genomes]
rs11990322	1.00[CEU][hapmap]
rs11990461	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[EUR][1000 genomes]
rs11992069	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11992252	1.00[CEU][hapmap]
rs11992605	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap]
rs11993354	1.00[CEU][hapmap]
rs11995256	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11995814	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11996861	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11997260	1.00[CEU][hapmap]
rs11997967	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11998194	1.00[CEU][hapmap]
rs11998301	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12114202	0.84[ASN][1000 genomes]
rs12114734	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs16932996	1.00[CEU][hapmap]
rs16933013	1.00[CEU][hapmap]
rs16933026	1.00[CEU][hapmap]
rs16933032	1.00[CEU][hapmap]
rs16933034	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16933036	1.00[CEU][hapmap]
rs16933039	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16933057	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16933060	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16933065	1.00[CEU][hapmap]
rs16933071	1.00[CEU][hapmap]
rs16933079	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[EUR][1000 genomes]
rs16933080	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16933092	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16933094	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap]
rs16933097	1.00[CEU][hapmap]
rs16933138	0.84[ASN][1000 genomes]
rs2357998	1.00[CEU][hapmap]
rs2358000	1.00[CEU][hapmap]
rs28547325	0.84[ASN][1000 genomes]
rs35517376	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35809374	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3779995	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[EUR][1000 genomes]
rs3808602	1.00[CEU][hapmap]
rs3824258	1.00[CEU][hapmap]
rs3857962	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3913346	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3929419	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4073730	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4345540	1.00[CEU][hapmap]
rs4534119	1.00[CEU][hapmap]
rs4613982	1.00[ASN][1000 genomes]
rs55893527	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56056216	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56215867	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56345609	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs57894537	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58434561	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58653469	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58991268	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59226286	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs59469156	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60666237	0.87[EUR][1000 genomes]
rs60741740	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60773515	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61080934	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61085456	0.90[EUR][1000 genomes]
rs6472285	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6472289	0.92[EUR][1000 genomes]
rs6651278	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6981761	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6982137	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6982202	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs6982699	0.87[EUR][1000 genomes]
rs6983632	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6984447	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[EUR][1000 genomes]
rs6984650	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6985273	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6986940	1.00[CEU][hapmap]
rs6987665	1.00[CEU][hapmap]
rs6998252	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6998505	1.00[CEU][hapmap]
rs6998777	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[YRI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7002183	0.82[ASN][1000 genomes]
rs7002479	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[YRI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7003548	1.00[CEU][hapmap]
rs7015619	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7017471	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73691182	0.84[ASN][1000 genomes]
rs73691557	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73691562	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73691565	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73691571	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73691572	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73691578	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73691579	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73691582	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73691586	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73691595	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73693615	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73693631	0.92[EUR][1000 genomes]
rs73693632	0.92[EUR][1000 genomes]
rs7815142	0.92[EUR][1000 genomes]
rs7815863	0.87[EUR][1000 genomes]
rs7820403	0.92[EUR][1000 genomes]
rs7820420	1.00[JPT][hapmap]
rs7824775	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs7840192	1.00[CEU][hapmap]
rs7842770	0.87[EUR][1000 genomes]
rs979679	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9918866	1.00[CHB][hapmap];1.00[GIH][hapmap]
rs9918869	0.95[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	nsv1026746	chr8:67639626-67794164	ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67687800-67702600	Weak transcription	Spleen	Spleen
2	chr8:67688000-67713800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:67688000-67783000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:67688200-67696400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:67688200-67697200	Weak transcription	Gastric	stomach
6	chr8:67688200-67703800	Weak transcription	Lung	lung
7	chr8:67688200-67738000	Weak transcription	HSMM	muscle
8	chr8:67688400-67695200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr8:67688400-67703000	Weak transcription	Aorta	Aorta
10	chr8:67688400-67706600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr8:67688400-67730400	Weak transcription	HSMMtube	muscle
12	chr8:67688600-67693800	Weak transcription	NHDF-Ad	bronchial
13	chr8:67688600-67696000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr8:67688600-67696000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr8:67688600-67698000	Weak transcription	Psoas Muscle	Psoas
16	chr8:67688600-67699400	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr8:67688600-67707000	Weak transcription	Thymus	Thymus
18	chr8:67688800-67695600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr8:67688800-67697200	Weak transcription	Primary T cells from cord blood	blood
20	chr8:67688800-67702800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr8:67688800-67706600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr8:67688800-67707000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr8:67688800-67707200	Weak transcription	Colonic Mucosa	Colon
24	chr8:67688800-67709800	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr8:67689000-67696400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr8:67689000-67782600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr8:67689200-67707200	Weak transcription	Colon Smooth Muscle	Colon
28	chr8:67689600-67694000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr8:67689600-67696000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr8:67689600-67696200	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr8:67689600-67702800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr8:67689800-67693800	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr8:67689800-67696200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr8:67689800-67696200	Weak transcription	NHEK	skin
35	chr8:67689800-67709600	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr8:67690000-67694800	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr8:67690000-67696400	Weak transcription	GM12878-XiMat	blood
38	chr8:67690000-67697200	Weak transcription	Fetal Intestine Small	intestine
39	chr8:67690000-67702400	Weak transcription	Fetal Intestine Large	intestine
40	chr8:67690200-67700400	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr8:67690200-67706000	Weak transcription	Duodenum Mucosa	Duodenum
42	chr8:67690400-67696200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr8:67690600-67693600	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr8:67690600-67696000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr8:67690600-67696400	Weak transcription	Liver	Liver
46	chr8:67691000-67699200	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr8:67691200-67695600	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr8:67691400-67694000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr8:67691400-67697000	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr8:67691600-67730600	Weak transcription	Fetal Stomach	stomach

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