Variant report

Variant	rs12347364
Chromosome Location	chr9:108060055-108060056
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:108006089..108008759-chr9:108057985..108062385,6	MCF-7	breast:
2	chr9:108058873..108061058-chr9:108078895..108081704,2	MCF-7	breast:
3	chr9:108056287..108057910-chr9:108057918..108060484,2	MCF-7	breast:
4	chr9:108052475..108054719-chr9:108057760..108060481,3	MCF-7	breast:
5	chr9:108059299..108061602-chr9:108067206..108069690,2	K562	blood:

Variant related genes	Relation type
ENSG00000070214	Chromatin interaction

Extended variants
information (count: 165 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:156)

rs_ID	r²[population]
rs10521072	1.00[CEU][hapmap]
rs10820792	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10820793	1.00[ASN][1000 genomes]
rs10820795	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10820796	0.93[ASN][1000 genomes]
rs10991572	1.00[CEU][hapmap]
rs10991573	1.00[CEU][hapmap]
rs10991598	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10991600	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10991601	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10991607	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10991611	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10991612	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10991613	1.00[ASN][1000 genomes]
rs10991614	1.00[ASN][1000 genomes]
rs10991617	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10991618	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12335779	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12336008	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12342016	1.00[CEU][hapmap]
rs12343678	0.97[ASN][1000 genomes]
rs12345601	1.00[CEU][hapmap]
rs12348055	1.00[CEU][hapmap]
rs12348136	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12686574	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs167867	0.97[ASN][1000 genomes]
rs1705490	0.97[ASN][1000 genomes]
rs1705491	0.97[ASN][1000 genomes]
rs170582	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs179177	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs182756	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs186617	1.00[ASN][1000 genomes]
rs189020	1.00[ASN][1000 genomes]
rs193007	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs193008	0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs193009	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2004725	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2089807	1.00[ASN][1000 genomes]
rs2100044	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs227887	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs227888	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2441214	0.97[ASN][1000 genomes]
rs2900397	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs327944	1.00[ASN][1000 genomes]
rs327945	0.98[ASN][1000 genomes]
rs327946	1.00[ASN][1000 genomes]
rs327947	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs327948	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs327949	1.00[ASN][1000 genomes]
rs327950	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs327954	0.97[ASN][1000 genomes]
rs327955	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs327956	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs327958	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs327959	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs327960	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs327961	0.97[ASN][1000 genomes]
rs327962	0.97[ASN][1000 genomes]
rs327963	0.97[ASN][1000 genomes]
rs327964	0.97[ASN][1000 genomes]
rs327966	0.97[ASN][1000 genomes]
rs327967	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs327968	0.97[ASN][1000 genomes]
rs327975	1.00[ASN][1000 genomes]
rs327976	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs327977	1.00[ASN][1000 genomes]
rs327978	1.00[ASN][1000 genomes]
rs327979	1.00[ASN][1000 genomes]
rs327980	1.00[ASN][1000 genomes]
rs327981	1.00[ASN][1000 genomes]
rs327982	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs327983	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs327984	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs327985	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs327986	1.00[ASN][1000 genomes]
rs327987	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs327990	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs327991	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs327992	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs327993	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs327995	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs327996	0.97[ASN][1000 genomes]
rs327997	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs327998	0.95[ASN][1000 genomes]
rs327999	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs328000	0.97[ASN][1000 genomes]
rs328001	1.00[ASN][1000 genomes]
rs328002	1.00[ASN][1000 genomes]
rs328003	1.00[ASN][1000 genomes]
rs328004	1.00[ASN][1000 genomes]
rs328005	1.00[ASN][1000 genomes]
rs328006	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs328007	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs328008	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs328010	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs328011	1.00[ASN][1000 genomes]
rs328012	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs328013	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs328014	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs328015	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs328017	1.00[ASN][1000 genomes]
rs328018	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs328019	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs328020	0.97[ASN][1000 genomes]
rs328021	0.97[ASN][1000 genomes]
rs328022	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs35144319	0.97[ASN][1000 genomes]
rs35584395	1.00[ASN][1000 genomes]
rs365629	0.92[CHB][hapmap]
rs366144	0.97[ASN][1000 genomes]
rs370629	0.97[ASN][1000 genomes]
rs374445	0.97[ASN][1000 genomes]
rs375034	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs376926	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs377129	0.97[ASN][1000 genomes]
rs378467	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs380104	1.00[CHB][hapmap];0.82[JPT][hapmap];0.90[ASN][1000 genomes]
rs380667	0.97[ASN][1000 genomes]
rs382940	1.00[ASN][1000 genomes]
rs383126	0.90[CHB][hapmap]
rs383272	1.00[CHB][hapmap];0.82[JPT][hapmap];0.90[ASN][1000 genomes]
rs384924	1.00[CHB][hapmap];0.82[JPT][hapmap];0.89[ASN][1000 genomes]
rs384947	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs386565	1.00[CHB][hapmap];0.82[JPT][hapmap];0.90[ASN][1000 genomes]
rs388679	0.97[ASN][1000 genomes]
rs390336	0.97[ASN][1000 genomes]
rs390701	0.97[ASN][1000 genomes]
rs391943	0.97[ASN][1000 genomes]
rs398454	0.97[ASN][1000 genomes]
rs403316	0.97[ASN][1000 genomes]
rs410897	0.97[ASN][1000 genomes]
rs416641	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs418057	1.00[ASN][1000 genomes]
rs419443	0.97[ASN][1000 genomes]
rs419834	0.89[ASN][1000 genomes]
rs420717	1.00[CHB][hapmap];0.82[JPT][hapmap];0.90[ASN][1000 genomes]
rs422084	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs423976	0.97[ASN][1000 genomes]
rs424495	1.00[CHB][hapmap];0.82[JPT][hapmap];0.90[ASN][1000 genomes]
rs435379	0.97[ASN][1000 genomes]
rs438299	0.97[ASN][1000 genomes]
rs439308	0.97[ASN][1000 genomes]
rs440290	1.00[CHB][hapmap];0.82[JPT][hapmap];0.90[ASN][1000 genomes]
rs442605	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs443094	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs445964	0.97[ASN][1000 genomes]
rs446641	0.94[ASN][1000 genomes]
rs448836	0.93[ASN][1000 genomes]
rs6479305	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7020772	0.92[ASN][1000 genomes]
rs7020982	0.90[CHB][hapmap];0.82[JPT][hapmap];1.00[ASN][1000 genomes]
rs7021008	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7039398	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs72607137	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs7858967	0.93[ASN][1000 genomes]
rs7866947	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045108	chr9:107509553-108188550	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv831678	chr9:107923522-108112813	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv893685	chr9:107940737-108083485	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv893686	chr9:107968330-108083485	Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv893687	chr9:107973277-108083485	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv893688	chr9:107974761-108083485	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv893689	chr9:107978563-108130606	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv893690	chr9:107992706-108083485	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv1037750	chr9:108027692-108251733	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:108049400-108074200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr9:108050200-108061400	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr9:108050200-108061800	Weak transcription	Fetal Stomach	stomach
4	chr9:108051000-108061600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr9:108052400-108061400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr9:108052800-108061400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr9:108053000-108063000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr9:108053400-108061400	Weak transcription	Aorta	Aorta
9	chr9:108053600-108061600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr9:108053800-108061400	Weak transcription	Duodenum Mucosa	Duodenum
11	chr9:108054000-108065400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr9:108054000-108070000	Weak transcription	Gastric	stomach
13	chr9:108054200-108061800	Weak transcription	Pancreas	Pancrea
14	chr9:108054400-108060400	Enhancers	HepG2	liver
15	chr9:108054400-108061400	Weak transcription	Right Ventricle	heart
16	chr9:108054600-108061800	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr9:108054600-108090800	Weak transcription	Psoas Muscle	Psoas
18	chr9:108054800-108061800	Weak transcription	Stomach Smooth Muscle	stomach
19	chr9:108055000-108061600	Weak transcription	Colon Smooth Muscle	Colon
20	chr9:108055000-108061600	Weak transcription	Rectal Smooth Muscle	rectum
21	chr9:108055200-108061400	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr9:108055200-108065000	Weak transcription	Primary B cells from cord blood	blood
23	chr9:108055400-108061000	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr9:108055600-108151200	Weak transcription	Esophagus	oesophagus
25	chr9:108055800-108060600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr9:108056000-108061400	Weak transcription	Fetal Thymus	thymus
27	chr9:108056000-108061800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr9:108056000-108061800	Weak transcription	Brain Germinal Matrix	brain
29	chr9:108056400-108061600	Weak transcription	Fetal Brain Female	brain
30	chr9:108056600-108061200	Enhancers	Hela-S3	cervix
31	chr9:108056600-108062200	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr9:108056800-108077800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr9:108057000-108061800	Weak transcription	Thymus	Thymus
34	chr9:108057000-108062000	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr9:108057000-108064200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr9:108057000-108066800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr9:108057200-108060200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr9:108057200-108061200	Enhancers	Osteobl	bone
39	chr9:108057200-108061400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr9:108057400-108060600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr9:108057400-108060600	Enhancers	HSMM	muscle
42	chr9:108057400-108061800	Enhancers	Brain Substantia Nigra	brain
43	chr9:108057400-108082600	Weak transcription	Dnd41	blood
44	chr9:108057600-108060600	Enhancers	HSMMtube	muscle
45	chr9:108057600-108061200	Weak transcription	Primary T cells from cord blood	blood
46	chr9:108058200-108060200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr9:108058200-108062600	Enhancers	NHDF-Ad	bronchial
48	chr9:108058200-108063000	Enhancers	Stomach Mucosa	stomach
49	chr9:108058400-108060200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr9:108058400-108060400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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