Variant report

Variant	rs11182927
Chromosome Location	chr12:45622340-45622341
allele	A/G
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	chr12:45619649..45622444-chr12:45625161..45628062,2	K562	blood:
3	chr12:45608098..45612348-chr12:45617340..45626325,10	K562	blood:
4	chr12:45620175..45623009-chr12:45625833..45628056,2	MCF-7	breast:
5	chr12:45616751..45618996-chr12:45620407..45623047,2	K562	blood:
6	chr12:45610131..45611639-chr12:45621974..45623709,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134297	Chromatin interaction
ENSG00000177119	Chromatin interaction

Extended variants
information (count: 114 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:113)

rs_ID	r²[population]
rs1025090	0.82[JPT][hapmap]
rs10437984	0.91[EUR][1000 genomes]
rs10459293	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];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[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10459295	0.90[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs10492284	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];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];0.84[LWK][hapmap];0.88[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];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];0.85[MEX][hapmap];0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10880758	0.90[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10880760	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10880761	0.89[CEU][hapmap];0.87[AMR][1000 genomes];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];0.82[ASN][1000 genomes]
rs10880766	0.89[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs10880768	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs10880775	0.80[JPT][hapmap]
rs11182898	0.90[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11182899	0.93[ASN][1000 genomes]
rs11182903	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];0.85[LWK][hapmap];0.88[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];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	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11182913	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11182915	0.81[AFR][1000 genomes]
rs11182916	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]
rs11182917	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[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11182921	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182922	0.91[EUR][1000 genomes]
rs11182923	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11182931	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	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11182936	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11182938	0.91[EUR][1000 genomes]
rs11182939	0.91[EUR][1000 genomes]
rs11182940	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11182941	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11182942	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11182943	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11182944	0.91[EUR][1000 genomes]
rs11182946	0.91[EUR][1000 genomes]
rs11182947	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11182949	0.89[CEU][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes]
rs11182951	0.89[CHB][hapmap];0.88[CHD][hapmap]
rs11182953	0.89[ASN][1000 genomes]
rs11182954	0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs11182955	0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs11182957	0.89[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs11182961	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs11182965	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs11182981	0.85[CHB][hapmap];1.00[JPT][hapmap]
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[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11610233	0.89[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11611509	0.89[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11612203	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11612233	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11614082	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs11614089	0.90[CHB][hapmap];0.93[JPT][hapmap];0.82[ASN][1000 genomes]
rs11615850	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12226944	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[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12228399	0.82[ASN][1000 genomes]
rs12228733	0.89[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];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	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12320168	0.89[CEU][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs12320437	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12322087	0.89[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12814332	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12815115	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12815334	0.89[ASN][1000 genomes]
rs12815723	0.89[ASN][1000 genomes]
rs12818421	0.86[ASN][1000 genomes]
rs12822746	0.83[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12828052	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17095551	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17095557	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]
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];0.88[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2408185	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34024171	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35032811	0.82[ASN][1000 genomes]
rs35054776	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]
rs35588430	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35660715	0.91[EUR][1000 genomes]
rs3759077	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3759080	0.91[EUR][1000 genomes]
rs3759081	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3759082	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3782131	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57560057	0.89[ASN][1000 genomes]
rs57797434	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61923810	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61923825	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61923830	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7138983	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7954282	0.89[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.86[YRI][hapmap];0.93[AMR][1000 genomes];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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11182927	TMEM16F	cis	multi-tissue	Pritchard

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45611000-45624800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:45611200-45628000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:45611600-45629400	Weak transcription	Fetal Muscle Trunk	muscle
4	chr12:45611800-45624800	Weak transcription	HSMM	muscle
5	chr12:45612400-45624800	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr12:45612400-45624800	Weak transcription	Osteobl	bone
7	chr12:45612400-45628000	Weak transcription	Primary hematopoietic stem cells	blood
8	chr12:45613200-45622400	Weak transcription	Primary B cells from cord blood	blood
9	chr12:45613800-45624200	Weak transcription	HUVEC	blood vessel
10	chr12:45613800-45625000	Weak transcription	NHLF	lung
11	chr12:45613800-45625600	Weak transcription	Right Ventricle	heart
12	chr12:45613800-45628400	Weak transcription	Lung	lung
13	chr12:45613800-45628800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr12:45613800-45635800	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr12:45613800-45638000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr12:45613800-45638200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr12:45614000-45624600	Weak transcription	NHDF-Ad	bronchial
18	chr12:45614000-45625200	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr12:45614000-45625400	Weak transcription	Brain Substantia Nigra	brain
20	chr12:45614000-45626400	Weak transcription	Left Ventricle	heart
21	chr12:45614000-45627600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr12:45614000-45637600	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr12:45614200-45625000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr12:45614200-45625000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr12:45614400-45624800	Weak transcription	HepG2	liver
26	chr12:45614400-45624800	Weak transcription	NH-A	brain
27	chr12:45614400-45628800	Weak transcription	Spleen	Spleen
28	chr12:45614400-45629000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr12:45614400-45639600	Weak transcription	Dnd41	blood
30	chr12:45614400-45650200	Weak transcription	Primary T cells from cord blood	blood
31	chr12:45614600-45625000	Weak transcription	Hela-S3	cervix
32	chr12:45614800-45622600	Weak transcription	Fetal Stomach	stomach
33	chr12:45614800-45627400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr12:45614800-45629000	Weak transcription	Brain Hippocampus Middle	brain
35	chr12:45615000-45625400	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr12:45615000-45628400	Weak transcription	Esophagus	oesophagus
37	chr12:45615200-45622400	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr12:45615200-45624800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr12:45615200-45624800	Weak transcription	HMEC	breast
40	chr12:45615200-45625200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr12:45615200-45625200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr12:45615200-45625200	Weak transcription	Fetal Lung	lung
43	chr12:45615400-45622400	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr12:45615400-45622400	Weak transcription	Pancreas	Pancrea
45	chr12:45615600-45625000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr12:45615600-45625600	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr12:45616800-45622400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr12:45617000-45628800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr12:45617400-45625000	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr12:45617800-45622400	Weak transcription	Fetal Intestine Large	intestine

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