Variant report

Variant	rs11182957
Chromosome Location	chr12:45667519-45667520
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:45661937..45664338-chr12:45665875..45667704,2	K562	blood:
2	chr12:45662725..45665440-chr12:45666168..45668980,3	K562	blood:
3	chr12:45666061..45668548-chr12:45671361..45673556,2	K562	blood:
4	chr12:45666236..45669203-chr12:45679829..45682427,2	MCF-7	breast:
5	chr12:45654235..45656718-chr12:45666957..45669692,2	MCF-7	breast:

Extended variants
information (count: 107 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:106)

rs_ID	r²[population]
rs1015626	0.82[CEU][hapmap];0.87[EUR][1000 genomes]
rs1025090	0.82[JPT][hapmap]
rs10459293	0.89[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10459294	0.89[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs10459295	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10492284	1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10785556	1.00[JPT][hapmap]
rs10785566	0.82[CEU][hapmap];0.87[EUR][1000 genomes]
rs10785569	0.80[JPT][hapmap]
rs10880757	0.87[JPT][hapmap]
rs10880758	1.00[JPT][hapmap]
rs10880765	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10880766	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10880768	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10880775	0.82[JPT][hapmap]
rs11182898	1.00[JPT][hapmap]
rs11182903	0.80[AMR][1000 genomes]
rs11182904	1.00[JPT][hapmap]
rs11182912	0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs11182916	0.84[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11182917	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11182919	0.83[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs11182921	0.82[ASN][1000 genomes]
rs11182923	0.80[ASN][1000 genomes]
rs11182927	0.89[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs11182931	0.89[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11182935	0.83[ASN][1000 genomes]
rs11182940	0.82[ASN][1000 genomes]
rs11182941	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11182942	0.81[ASN][1000 genomes]
rs11182943	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11182947	0.85[ASN][1000 genomes]
rs11182953	0.94[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11182954	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11182955	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11182961	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11182965	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11182966	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11182969	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11182970	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11182973	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11182974	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11182981	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11182983	0.82[JPT][hapmap]
rs11182986	0.80[JPT][hapmap]
rs11182988	0.80[JPT][hapmap]
rs11182989	0.82[JPT][hapmap]
rs11182990	0.82[JPT][hapmap]
rs11561532	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11610233	1.00[JPT][hapmap]
rs11611509	1.00[JPT][hapmap];0.80[AMR][1000 genomes]
rs11612203	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11612233	0.84[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs11614082	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11614089	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11615850	0.82[ASN][1000 genomes]
rs12226944	0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12227678	0.94[JPT][hapmap];0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12228399	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12228733	0.88[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes]
rs12320437	0.82[ASN][1000 genomes]
rs12322087	1.00[JPT][hapmap]
rs12814332	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12815115	0.81[ASN][1000 genomes]
rs12815334	0.94[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12815577	0.82[CEU][hapmap]
rs12815723	0.94[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12818421	0.94[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12822746	0.82[ASN][1000 genomes]
rs13378014	0.82[JPT][hapmap]
rs1399721	0.87[EUR][1000 genomes]
rs17095551	0.82[ASN][1000 genomes]
rs17095557	0.89[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1913692	0.82[CEU][hapmap];0.87[EUR][1000 genomes]
rs2012937	0.87[EUR][1000 genomes]
rs2408185	0.84[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs34024171	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs34759896	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35032811	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35054776	0.89[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs35400022	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3759077	0.82[ASN][1000 genomes]
rs3759081	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs3759082	0.84[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs3782131	0.84[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs4326862	0.80[EUR][1000 genomes]
rs4768085	0.82[CEU][hapmap]
rs4768598	0.89[EUR][1000 genomes]
rs4768601	0.85[EUR][1000 genomes]
rs4768602	0.87[EUR][1000 genomes]
rs4768603	0.87[EUR][1000 genomes]
rs57560057	0.94[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs57797434	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs61923810	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs61923825	0.82[ASN][1000 genomes]
rs61923830	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6582541	0.89[EUR][1000 genomes]
rs7136368	0.85[EUR][1000 genomes]
rs7138247	0.82[CEU][hapmap];0.89[EUR][1000 genomes]
rs728590	0.82[CEU][hapmap];0.87[EUR][1000 genomes]
rs7304481	0.82[CEU][hapmap]
rs7307262	0.82[CEU][hapmap];0.87[EUR][1000 genomes]
rs7309615	0.82[CEU][hapmap];0.85[EUR][1000 genomes]
rs7310046	0.87[EUR][1000 genomes]
rs7954282	1.00[JPT][hapmap]
rs7965430	0.82[CEU][hapmap];0.82[EUR][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	nsv1050923	chr12:45581310-45808289	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45651400-45675600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr12:45651600-45674000	Weak transcription	Primary B cells from cord blood	blood
3	chr12:45654400-45667600	Weak transcription	Primary T cells from cord blood	blood
4	chr12:45654400-45725600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr12:45662800-45667600	Weak transcription	Esophagus	oesophagus
6	chr12:45662800-45677400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr12:45662800-45685400	Weak transcription	Primary B cells from peripheral blood	blood
8	chr12:45662800-45696800	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr12:45663000-45667600	Weak transcription	Gastric	stomach
10	chr12:45663000-45667800	Weak transcription	Pancreas	Pancrea
11	chr12:45663000-45668200	Enhancers	Adipose Nuclei	Adipose
12	chr12:45663000-45670000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr12:45663000-45677400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr12:45663000-45677600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:45663000-45678200	Weak transcription	Fetal Muscle Trunk	muscle
16	chr12:45663200-45674000	Weak transcription	Dnd41	blood
17	chr12:45663200-45678400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr12:45663400-45672200	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr12:45663400-45677400	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr12:45663400-45677400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr12:45663400-45680400	Weak transcription	GM12878-XiMat	blood
22	chr12:45663600-45674400	Weak transcription	Primary hematopoietic stem cells	blood
23	chr12:45663600-45677000	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr12:45664000-45667600	Weak transcription	Fetal Intestine Small	intestine
25	chr12:45664000-45667800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr12:45664000-45667800	Weak transcription	Fetal Intestine Large	intestine
27	chr12:45664000-45672200	Weak transcription	Liver	Liver
28	chr12:45664000-45676000	Weak transcription	Fetal Stomach	stomach
29	chr12:45664000-45678400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr12:45664200-45667800	Weak transcription	Lung	lung
31	chr12:45664200-45669800	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr12:45664400-45667800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr12:45664400-45677600	Weak transcription	Fetal Kidney	kidney
34	chr12:45665000-45668800	Enhancers	NHDF-Ad	bronchial
35	chr12:45665000-45673600	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr12:45665400-45668200	Enhancers	HUVEC	blood vessel
37	chr12:45665400-45668400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr12:45665400-45668400	Strong transcription	Fetal Thymus	thymus
39	chr12:45665600-45676000	Weak transcription	Thymus	Thymus
40	chr12:45666000-45667800	Enhancers	NHEK	skin
41	chr12:45666200-45668000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr12:45666200-45668800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr12:45666200-45709200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr12:45666600-45668200	Enhancers	Colon Smooth Muscle	Colon
45	chr12:45666600-45668400	Strong transcription	Primary monocytes fromperipheralblood	blood
46	chr12:45666600-45670600	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr12:45666800-45668200	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr12:45666800-45668600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr12:45666800-45668600	Enhancers	Right Atrium	heart
50	chr12:45666800-45668600	Enhancers	Small Intestine	intestine

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