Variant report

Variant	rs11182931
Chromosome Location	chr12:45630141-45630142
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:45608270..45616533-chr12:45619913..45631094,20	MCF-7	breast:
2	chr12:45608440..45613952-chr12:45624018..45631221,10	MCF-7	breast:
3	chr12:45625441..45631111-chr12:45668814..45675582,6	MCF-7	breast:
4	chr12:45628183..45630474-chr12:45646275..45648186,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134297	Chromatin interaction
ENSG00000177119	Chromatin interaction

Extended variants
information (count: 120 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:119)

rs_ID	r²[population]
rs1025090	0.82[JPT][hapmap];1.00[MKK][hapmap]
rs10437984	0.91[EUR][1000 genomes]
rs10459293	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10459294	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10459295	0.90[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10492284	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10785556	0.89[CEU][hapmap];0.90[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10785557	0.91[EUR][1000 genomes]
rs10785569	0.80[JPT][hapmap]
rs10880757	0.85[CHB][hapmap];0.81[CHD][hapmap];0.87[JPT][hapmap];1.00[MEX][hapmap];0.84[ASN][1000 genomes]
rs10880758	0.90[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10880760	0.91[EUR][1000 genomes]
rs10880761	0.89[CEU][hapmap];0.89[EUR][1000 genomes]
rs10880762	0.89[CEU][hapmap];0.91[EUR][1000 genomes]
rs10880763	0.91[EUR][1000 genomes]
rs10880764	0.89[CEU][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs10880765	0.94[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10880766	0.89[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10880768	0.90[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes]
rs10880775	0.80[JPT][hapmap]
rs11182898	0.90[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs11182899	0.91[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11182903	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11182904	0.89[CEU][hapmap];0.90[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11182905	0.80[CEU][hapmap];0.81[EUR][1000 genomes]
rs11182908	0.81[EUR][1000 genomes]
rs11182912	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11182913	0.91[EUR][1000 genomes]
rs11182916	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182917	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182918	0.89[CEU][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs11182919	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11182921	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182922	0.91[EUR][1000 genomes]
rs11182923	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11182927	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182935	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11182936	0.91[EUR][1000 genomes]
rs11182938	0.91[EUR][1000 genomes]
rs11182939	0.91[EUR][1000 genomes]
rs11182940	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11182941	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11182942	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11182943	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11182944	0.91[EUR][1000 genomes]
rs11182946	0.91[EUR][1000 genomes]
rs11182947	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11182949	0.89[CEU][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes]
rs11182951	0.89[CHB][hapmap];0.88[CHD][hapmap];0.93[MKK][hapmap]
rs11182953	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11182954	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[MKK][hapmap];0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11182955	0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11182957	0.89[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11182961	0.90[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes]
rs11182965	0.90[CHB][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.80[AMR][1000 genomes]
rs11182966	0.80[AMR][1000 genomes]
rs11182969	0.80[AMR][1000 genomes]
rs11182970	0.80[AMR][1000 genomes]
rs11182973	0.80[AMR][1000 genomes]
rs11182974	0.80[AMR][1000 genomes]
rs11182981	0.85[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes]
rs11182983	0.80[JPT][hapmap]
rs11182986	0.80[JPT][hapmap]
rs11182988	0.80[JPT][hapmap]
rs11182989	0.80[JPT][hapmap]
rs11182990	0.80[JPT][hapmap]
rs11561532	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11610233	0.89[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11611509	0.89[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11612203	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11612233	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11614082	0.90[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes]
rs11614089	0.90[CHB][hapmap];0.93[JPT][hapmap];0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11615850	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12226944	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12227678	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12228399	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12228733	0.89[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12230322	0.89[CEU][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs12231753	0.80[CEU][hapmap];1.00[TSI][hapmap];0.81[EUR][1000 genomes]
rs12299174	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12320168	0.89[CEU][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs12320437	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12322087	0.89[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12814332	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12815115	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12815334	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12815723	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12818421	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12822746	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12828052	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17095551	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17095557	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2052602	0.91[EUR][1000 genomes]
rs2052603	0.89[CEU][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes]
rs2408184	0.89[CEU][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs2408185	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34024171	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34759896	0.80[AMR][1000 genomes]
rs35032811	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs35054776	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35400022	0.80[AMR][1000 genomes]
rs35588430	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35660715	0.91[EUR][1000 genomes]
rs3759077	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3759080	0.91[EUR][1000 genomes]
rs3759081	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3759082	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3782131	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57560057	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs57797434	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61923810	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61923825	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61923830	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7138983	0.87[EUR][1000 genomes]
rs7954282	0.89[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.90[ASN][1000 genomes]
rs7963038	0.89[CEU][hapmap];0.91[EUR][1000 genomes]
rs7963057	0.91[EUR][1000 genomes]
rs9739519	0.91[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:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45613800-45635800	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr12:45613800-45638000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr12:45613800-45638200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr12:45614000-45637600	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr12:45614400-45639600	Weak transcription	Dnd41	blood
6	chr12:45614400-45650200	Weak transcription	Primary T cells from cord blood	blood
7	chr12:45624800-45630200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr12:45625200-45630200	Enhancers	Rectal Smooth Muscle	rectum
9	chr12:45625400-45635600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr12:45627400-45650600	Weak transcription	Primary B cells from cord blood	blood
11	chr12:45628800-45630200	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr12:45629200-45630200	Enhancers	Colon Smooth Muscle	Colon
13	chr12:45629200-45636200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr12:45629400-45636000	Weak transcription	Primary hematopoietic stem cells	blood
15	chr12:45629600-45630200	Enhancers	HMEC	breast
16	chr12:45629600-45630200	Enhancers	Osteobl	bone
17	chr12:45629600-45635600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr12:45629800-45630200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr12:45629800-45630200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr12:45629800-45630200	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr12:45629800-45630200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr12:45629800-45630200	Enhancers	Hela-S3	cervix
23	chr12:45629800-45630800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr12:45629800-45631800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr12:45629800-45635200	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr12:45629800-45635600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr12:45629800-45635600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr12:45629800-45635600	Weak transcription	Esophagus	oesophagus
29	chr12:45629800-45635600	Weak transcription	Fetal Intestine Small	intestine
30	chr12:45629800-45635600	Weak transcription	Fetal Muscle Trunk	muscle
31	chr12:45629800-45635600	Weak transcription	Psoas Muscle	Psoas
32	chr12:45629800-45635800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr12:45629800-45635800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr12:45629800-45635800	Weak transcription	Thymus	Thymus
35	chr12:45629800-45636000	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr12:45629800-45637600	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr12:45629800-45638000	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr12:45629800-45638000	Weak transcription	Liver	Liver
39	chr12:45629800-45638400	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr12:45629800-45638400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr12:45629800-45638600	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr12:45629800-45638600	Weak transcription	Spleen	Spleen
43	chr12:45629800-45640000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr12:45629800-45640200	Weak transcription	Gastric	stomach
45	chr12:45629800-45640400	Weak transcription	Ovary	ovary
46	chr12:45629800-45641400	Weak transcription	Left Ventricle	heart
47	chr12:45629800-45642600	Weak transcription	Brain Substantia Nigra	brain
48	chr12:45629800-45642600	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr12:45629800-45651000	Weak transcription	K562	blood
50	chr12:45629800-45651400	Weak transcription	Fetal Intestine Large	intestine

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