Variant report

Variant	rs11611509
Chromosome Location	chr12:45593937-45593938
allele	A/T
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	chr12:45593934-45593961	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:45592656..45594257-chr12:45595934..45597437,2	K562	blood:
2	chr12:45593253..45599943-chr12:45607385..45612735,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257738	TF binding region
ENSG00000134297	Chromatin interaction
ENSG00000177119	Chromatin interaction

Extended variants
information (count: 117 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:116)

rs_ID	r²[population]
rs1025090	0.81[CHB][hapmap];0.82[JPT][hapmap]
rs10437984	0.81[EUR][1000 genomes]
rs10459293	0.89[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10459294	0.89[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10459295	1.00[JPT][hapmap];0.80[AMR][1000 genomes]
rs10492284	0.89[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10785556	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10785557	0.81[EUR][1000 genomes]
rs10785569	0.80[JPT][hapmap]
rs10880757	0.89[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10880758	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10880760	0.81[EUR][1000 genomes]
rs10880762	0.81[EUR][1000 genomes]
rs10880763	0.81[EUR][1000 genomes]
rs10880764	0.81[EUR][1000 genomes]
rs10880765	0.83[CHB][hapmap];0.94[JPT][hapmap];0.80[AMR][1000 genomes]
rs10880766	1.00[JPT][hapmap];0.80[AMR][1000 genomes]
rs10880768	1.00[JPT][hapmap];0.80[AMR][1000 genomes]
rs10880775	0.82[JPT][hapmap]
rs11182898	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11182899	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182903	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182904	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182905	0.90[CEU][hapmap];0.91[EUR][1000 genomes]
rs11182908	0.91[EUR][1000 genomes]
rs11182912	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11182913	0.81[EUR][1000 genomes]
rs11182916	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11182917	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11182918	0.81[EUR][1000 genomes]
rs11182919	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11182921	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11182922	0.81[EUR][1000 genomes]
rs11182923	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11182927	0.89[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11182931	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]
rs11182935	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11182936	0.81[EUR][1000 genomes]
rs11182938	0.81[EUR][1000 genomes]
rs11182939	0.81[EUR][1000 genomes]
rs11182940	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11182941	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11182942	0.87[ASN][1000 genomes]
rs11182943	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11182944	0.81[EUR][1000 genomes]
rs11182946	0.81[EUR][1000 genomes]
rs11182947	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11182953	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11182954	0.84[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11182955	0.84[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11182957	1.00[JPT][hapmap];0.80[AMR][1000 genomes]
rs11182961	1.00[JPT][hapmap];0.80[AMR][1000 genomes]
rs11182965	1.00[JPT][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	1.00[JPT][hapmap];0.80[AMR][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	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11610233	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11612203	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11612233	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11614082	1.00[JPT][hapmap];0.80[AMR][1000 genomes]
rs11614089	0.94[JPT][hapmap];0.80[AMR][1000 genomes]
rs11615850	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12226944	1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12227678	0.89[CEU][hapmap];0.80[CHB][hapmap];0.94[JPT][hapmap];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12228399	0.80[AMR][1000 genomes]
rs12228733	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]
rs12230322	0.81[EUR][1000 genomes]
rs12231753	0.90[CEU][hapmap];0.91[EUR][1000 genomes]
rs12299174	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12320168	0.81[EUR][1000 genomes]
rs12320437	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12322087	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12814332	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12815115	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12815334	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12815723	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12818421	0.85[AMR][1000 genomes]
rs12822746	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12828052	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13378014	0.82[JPT][hapmap]
rs17095551	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17095557	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]
rs2052602	0.81[EUR][1000 genomes]
rs2408184	0.81[EUR][1000 genomes]
rs2408185	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34024171	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34759896	0.80[AMR][1000 genomes]
rs35032811	0.80[AMR][1000 genomes]
rs35054776	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]
rs35400022	0.80[AMR][1000 genomes]
rs35588430	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35660715	0.81[EUR][1000 genomes]
rs3759077	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3759080	0.81[EUR][1000 genomes]
rs3759081	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3759082	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3782131	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57560057	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs57797434	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61923804	0.86[EUR][1000 genomes]
rs61923810	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61923825	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61923830	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7954282	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7963038	0.81[EUR][1000 genomes]
rs7963057	0.81[EUR][1000 genomes]
rs9739519	0.81[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:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45571000-45594600	Weak transcription	Pancreas	Pancrea
2	chr12:45573400-45594600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:45578600-45594000	Weak transcription	Thymus	Thymus
4	chr12:45578600-45594600	Weak transcription	Psoas Muscle	Psoas
5	chr12:45579400-45599200	Weak transcription	Primary B cells from cord blood	blood
6	chr12:45584800-45594400	Weak transcription	Aorta	Aorta
7	chr12:45586600-45594600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr12:45586600-45602400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:45587200-45594600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr12:45592200-45599400	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr12:45593000-45594800	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr12:45593000-45595200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr12:45593000-45595400	Enhancers	Fetal Intestine Large	intestine
14	chr12:45593000-45595600	Enhancers	HepG2	liver
15	chr12:45593200-45595200	Enhancers	Placenta Amnion	Placenta Amnion
16	chr12:45593400-45594200	Enhancers	Rectal Smooth Muscle	rectum
17	chr12:45593400-45594800	Enhancers	Duodenum Smooth Muscle	Duodenum
18	chr12:45593400-45595000	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr12:45593400-45600000	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr12:45593600-45594200	Enhancers	Primary T cells from cord blood	blood
21	chr12:45593600-45594200	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr12:45593600-45594200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
23	chr12:45593600-45594200	Enhancers	Adipose Nuclei	Adipose
24	chr12:45593600-45594400	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr12:45593600-45594400	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr12:45593600-45595000	Flanking Active TSS	Dnd41	blood
27	chr12:45593600-45595200	Enhancers	Fetal Thymus	thymus
28	chr12:45593600-45595400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr12:45593800-45594000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr12:45593800-45594000	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr12:45593800-45594200	Flanking Active TSS	Primary hematopoietic stem cells	blood
32	chr12:45593800-45594200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr12:45593800-45594800	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr12:45593800-45594800	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr12:45593800-45594800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr12:45593800-45594800	Active TSS	Stomach Smooth Muscle	stomach
37	chr12:45593800-45595000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr12:45593800-45595000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr12:45593800-45595200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr12:45593800-45595200	Flanking Active TSS	Liver	Liver
41	chr12:45593800-45595200	Enhancers	Small Intestine	intestine
42	chr12:45593800-45595800	Enhancers	Fetal Intestine Small	intestine

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