Variant report

Variant	rs12576590
Chromosome Location	chr11:17181060-17181061
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10430892	1.00[EUR][1000 genomes]
rs10741723	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10832730	0.91[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs10832753	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs10832756	0.80[CHB][hapmap]
rs11024142	0.87[ASN][1000 genomes]
rs11024145	0.87[ASN][1000 genomes]
rs11024146	0.89[ASN][1000 genomes]
rs11024147	0.91[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.89[ASN][1000 genomes]
rs11024150	0.90[ASN][1000 genomes]
rs11024152	0.89[ASN][1000 genomes]
rs11024153	0.91[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11024185	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11024186	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11024190	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11024197	1.00[EUR][1000 genomes]
rs11024199	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11024201	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs11024226	1.00[EUR][1000 genomes]
rs11024243	1.00[EUR][1000 genomes]
rs11024245	1.00[EUR][1000 genomes]
rs11024246	1.00[EUR][1000 genomes]
rs12225195	1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17847728	0.89[ASN][1000 genomes]
rs214933	0.83[YRI][hapmap]
rs2302511	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4757499	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61555995	1.00[EUR][1000 genomes]
rs6416174	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6486349	0.87[ASN][1000 genomes]
rs6486350	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6486353	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67771121	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7113011	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7122571	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7123825	0.88[ASN][1000 genomes]
rs7125085	0.83[AFR][1000 genomes]
rs7125829	1.00[YRI][hapmap]
rs7127204	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7127347	0.91[CHB][hapmap]
rs72632986	0.89[ASN][1000 genomes]
rs72632987	0.88[ASN][1000 genomes]
rs72632988	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72632989	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72632990	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73433254	0.86[AFR][1000 genomes]
rs7928860	1.00[YRI][hapmap]
rs7929047	0.96[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7934596	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7941165	0.89[ASN][1000 genomes]
rs7945756	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv467711	chr11:17027555-17320797	Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv553568	chr11:17027555-17320797	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv7691	chr11:17151593-17196894	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv469762	chr11:17170690-17320691	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv482905	chr11:17170690-17320691	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17111600-17182000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr11:17120400-17181600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr11:17125800-17181400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr11:17126800-17186400	Weak transcription	Colonic Mucosa	Colon
5	chr11:17130200-17203800	Weak transcription	Aorta	Aorta
6	chr11:17140000-17183400	Weak transcription	Small Intestine	intestine
7	chr11:17144200-17192800	Weak transcription	NHDF-Ad	bronchial
8	chr11:17150800-17186000	Weak transcription	NHLF	lung
9	chr11:17156400-17186400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr11:17156400-17186600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr11:17156600-17182400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr11:17156600-17183600	Weak transcription	Lung	lung
13	chr11:17156600-17219200	Weak transcription	HSMMtube	muscle
14	chr11:17158000-17215600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr11:17164400-17181200	Weak transcription	Gastric	stomach
16	chr11:17164400-17186200	Weak transcription	A549	lung
17	chr11:17165200-17215200	Weak transcription	Rectal Smooth Muscle	rectum
18	chr11:17166200-17190200	Weak transcription	NH-A	brain
19	chr11:17166400-17183600	Weak transcription	Fetal Intestine Small	intestine
20	chr11:17167000-17183800	Weak transcription	Fetal Muscle Leg	muscle
21	chr11:17167000-17184000	Weak transcription	Pancreas	Pancrea
22	chr11:17167000-17186000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr11:17167000-17188600	Weak transcription	Fetal Stomach	stomach
24	chr11:17167000-17188800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr11:17167400-17181800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr11:17167400-17183000	Weak transcription	Dnd41	blood
27	chr11:17167400-17183400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr11:17167400-17185000	Weak transcription	Ovary	ovary
29	chr11:17167400-17186800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr11:17167400-17190200	Weak transcription	Fetal Muscle Trunk	muscle
31	chr11:17167400-17190400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr11:17167400-17204400	Weak transcription	Thymus	Thymus
33	chr11:17167400-17212600	Weak transcription	Stomach Smooth Muscle	stomach
34	chr11:17167400-17228000	Weak transcription	Fetal Thymus	thymus
35	chr11:17167600-17181400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr11:17167600-17182200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr11:17167600-17186400	Weak transcription	HMEC	breast
38	chr11:17168000-17190200	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr11:17168200-17183600	Weak transcription	Left Ventricle	heart
40	chr11:17168200-17185000	Weak transcription	Right Ventricle	heart
41	chr11:17168200-17193800	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr11:17169400-17185600	Weak transcription	Hela-S3	cervix
43	chr11:17169400-17190600	Weak transcription	HSMM	muscle
44	chr11:17169800-17183200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr11:17170800-17186400	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr11:17171400-17186200	Weak transcription	Osteobl	bone
47	chr11:17172200-17184000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr11:17172600-17214600	Weak transcription	Fetal Brain Female	brain
49	chr11:17173000-17182400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr11:17173000-17183400	Weak transcription	Primary T cells fromperipheralblood	blood

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