Variant report

Variant	rs11182919
Chromosome Location	chr12:45612082-45612083
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr12:45608368-45612550	SK-N-SH	brain:	n/a	n/a
2	CHD1	chr12:45608396-45612092	IMR90	lung:	n/a	chr12:45610369-45610379
3	EBF1	chr12:45611935-45612100	GM12878	blood:	n/a	n/a
4	ZNF384	chr12:45611981-45612256	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:45611569..45613822-chr12:45799872..45802476,2	MCF-7	breast:
2	chr12:45593253..45599943-chr12:45607385..45612735,9	MCF-7	breast:
3	chr12:45600941..45603033-chr12:45611069..45612571,2	K562	blood:

Variant related genes	Relation type
PLEKHA8P1	TF binding region
ENSG00000257738	Chromatin interaction

Extended variants
information (count: 112 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:111)

rs_ID	r²[population]
rs1025090	0.82[JPT][hapmap]
rs10437984	0.91[EUR][1000 genomes]
rs10459293	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10459294	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];0.94[ASN][1000 genomes]
rs10459295	0.84[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs10492284	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10785556	0.89[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10785557	0.91[EUR][1000 genomes]
rs10880757	0.90[CHB][hapmap];0.87[JPT][hapmap];0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10880758	0.94[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.89[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];0.91[EUR][1000 genomes]
rs10880765	0.88[CHB][hapmap];0.94[JPT][hapmap];0.80[ASN][1000 genomes]
rs10880766	0.84[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs10880768	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs10880775	0.82[JPT][hapmap]
rs11182898	0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11182899	0.91[ASN][1000 genomes]
rs11182903	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11182904	0.89[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[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];0.97[ASN][1000 genomes]
rs11182913	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11182915	0.83[AFR][1000 genomes]
rs11182916	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11182917	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11182918	0.89[CEU][hapmap];0.91[EUR][1000 genomes]
rs11182921	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11182922	0.91[EUR][1000 genomes]
rs11182923	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11182927	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]
rs11182931	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11182935	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[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	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11182941	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11182942	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11182943	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11182944	0.91[EUR][1000 genomes]
rs11182946	0.91[EUR][1000 genomes]
rs11182947	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11182949	0.89[CEU][hapmap];0.89[EUR][1000 genomes]
rs11182951	0.83[CHB][hapmap]
rs11182953	0.87[ASN][1000 genomes]
rs11182954	0.89[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs11182955	0.89[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs11182957	0.83[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs11182961	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs11182965	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs11182981	1.00[JPT][hapmap]
rs11182983	0.82[JPT][hapmap]
rs11182989	0.82[JPT][hapmap]
rs11182990	0.82[JPT][hapmap]
rs11561532	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11610233	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11611509	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11612203	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11612233	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11614082	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs11614089	0.84[CHB][hapmap];0.94[JPT][hapmap];0.80[ASN][1000 genomes]
rs11615850	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12226944	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12227678	1.00[CEU][hapmap];0.84[CHB][hapmap];0.94[JPT][hapmap];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12228399	0.80[ASN][1000 genomes]
rs12228733	0.89[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12230322	0.89[CEU][hapmap];0.91[EUR][1000 genomes]
rs12231753	0.80[CEU][hapmap];0.81[EUR][1000 genomes]
rs12299174	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12320168	0.89[CEU][hapmap];0.91[EUR][1000 genomes]
rs12320437	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12322087	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12814332	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12815115	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12815334	0.87[ASN][1000 genomes]
rs12815723	0.87[ASN][1000 genomes]
rs12818421	0.85[ASN][1000 genomes]
rs12822746	0.85[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12828052	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13378014	0.81[JPT][hapmap]
rs17095551	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17095557	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2052602	0.91[EUR][1000 genomes]
rs2052603	0.89[CEU][hapmap];0.89[EUR][1000 genomes]
rs2408184	0.89[CEU][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2408185	1.00[CEU][hapmap];1.00[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]
rs34024171	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35032811	0.80[ASN][1000 genomes]
rs35054776	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35588430	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35660715	0.91[EUR][1000 genomes]
rs3759077	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3759080	0.91[EUR][1000 genomes]
rs3759081	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3759082	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];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3782131	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];0.98[ASN][1000 genomes]
rs57560057	0.87[ASN][1000 genomes]
rs57797434	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61923810	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61923825	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61923830	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7138983	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7954282	0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[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
rs11182919	TMEM16F	cis	multi-tissue	Pritchard

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45608200-45612400	Active TSS	HUES48 Cell Line	embryonic stem cell
2	chr12:45608400-45612200	Active TSS	Duodenum Smooth Muscle	Duodenum
3	chr12:45608400-45612400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr12:45608400-45613400	Active TSS	Stomach Smooth Muscle	stomach
5	chr12:45608600-45612200	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr12:45608600-45612200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr12:45608600-45612200	Active TSS	Colon Smooth Muscle	Colon
8	chr12:45608600-45612200	Active TSS	Placenta Amnion	Placenta Amnion
9	chr12:45608600-45612200	Active TSS	Psoas Muscle	Psoas
10	chr12:45608600-45612200	Active TSS	Right Ventricle	heart
11	chr12:45608600-45612400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr12:45608600-45612400	Active TSS	Fetal Intestine Large	intestine
13	chr12:45608600-45612400	Active TSS	Skeletal Muscle Female	skeletal muscle
14	chr12:45608600-45612400	Active TSS	NHLF	lung
15	chr12:45608600-45612800	Active TSS	Ovary	ovary
16	chr12:45608800-45612200	Active TSS	Fetal Thymus	thymus
17	chr12:45608800-45612200	Active TSS	GM12878-XiMat	blood
18	chr12:45608800-45612800	Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr12:45608800-45613400	Active TSS	Aorta	Aorta
20	chr12:45610200-45612200	Flanking Active TSS	Primary B cells from cord blood	blood
21	chr12:45610400-45612600	Active TSS	Right Atrium	heart
22	chr12:45610600-45612200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr12:45610600-45612400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr12:45610800-45612200	Flanking Active TSS	Primary T cells from cord blood	blood
25	chr12:45610800-45612200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr12:45610800-45612400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
27	chr12:45610800-45612400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
28	chr12:45610800-45612400	Flanking Active TSS	Liver	Liver
29	chr12:45610800-45612400	Flanking Active TSS	Duodenum Mucosa	Duodenum
30	chr12:45610800-45613400	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr12:45611000-45612200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr12:45611000-45612400	Enhancers	Primary B cells from peripheral blood	blood
33	chr12:45611000-45612600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr12:45611000-45612800	Weak transcription	Small Intestine	intestine
35	chr12:45611000-45613600	Weak transcription	Spleen	Spleen
36	chr12:45611000-45614400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr12:45611000-45617600	Weak transcription	Gastric	stomach
38	chr12:45611000-45624800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr12:45611200-45612200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr12:45611200-45612200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr12:45611200-45612400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
42	chr12:45611200-45612800	Weak transcription	Esophagus	oesophagus
43	chr12:45611200-45613000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr12:45611200-45613000	Weak transcription	Brain Anterior Caudate	brain
45	chr12:45611200-45613000	Weak transcription	Lung	lung
46	chr12:45611200-45613200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr12:45611200-45613200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr12:45611200-45613600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr12:45611200-45613800	Enhancers	Primary T cells fromperipheralblood	blood
50	chr12:45611200-45614600	Enhancers	Primary neutrophils fromperipheralblood	blood

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