Variant report

Variant	rs10899119
Chromosome Location	chr11:75485231-75485232
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	JUND	chr11:75484520-75485355	GM12878	blood:	n/a	n/a
2	MTA3	chr11:75483828-75485240	GM12878	blood:	n/a	n/a
3	SPI1	chr11:75484018-75485354	GM12878	blood:	n/a	chr11:75484780-75484793 chr11:75484786-75484795 chr11:75484484-75484497 chr11:75484487-75484494
4	REST	chr11:75485146-75485386	K562	blood:	n/a	n/a
5	STAT5A	chr11:75484538-75485338	GM12878	blood:	n/a	chr11:75485018-75485030

No.	Distal block	Cell Line	Cell type
1	chr11:75482948..75485726-chr11:75491815..75493587,2	K562	blood:
2	chr11:75479282..75481785-chr11:75482674..75485618,3	MCF-7	breast:
3	chr11:75479943..75481752-chr11:75484660..75487387,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254826	TF binding region
ENSG00000062282	Chromatin interaction
ENSG00000247867	Chromatin interaction

Extended variants
information (count: 128 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:125)

rs_ID	r²[population]
rs10160802	0.90[CEU][hapmap];0.81[AMR][1000 genomes]
rs1017713	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10219339	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10793124	0.81[CEU][hapmap];0.93[CHB][hapmap];0.87[JPT][hapmap];0.88[ASN][1000 genomes]
rs10793125	0.83[CEU][hapmap];0.93[CHB][hapmap];0.87[JPT][hapmap];0.88[ASN][1000 genomes]
rs10793126	0.88[ASN][1000 genomes]
rs10793127	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10793128	0.83[AMR][1000 genomes]
rs10793132	0.91[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10793133	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10793135	1.00[CEU][hapmap];0.87[JPT][hapmap];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10899105	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10899109	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10899110	0.83[CEU][hapmap];0.93[CHB][hapmap];0.86[JPT][hapmap];0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10899112	0.81[AMR][1000 genomes]
rs10899113	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10899114	0.83[CEU][hapmap]
rs10899116	0.90[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.93[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10899118	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs10899120	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10899121	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10899122	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10899123	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10899124	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10899127	0.90[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10899128	0.91[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10899129	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10899131	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10899132	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10899133	0.97[ASN][1000 genomes]
rs10899134	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10899135	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10899136	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10899137	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10899138	1.00[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10899139	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10899140	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10899141	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10899142	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10899144	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10899145	1.00[CEU][hapmap];0.93[CHB][hapmap];0.88[JPT][hapmap];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11236507	0.80[ASN][1000 genomes]
rs11236508	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11236509	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11236511	0.93[CHB][hapmap];0.87[JPT][hapmap];0.82[ASN][1000 genomes]
rs11236514	0.81[CEU][hapmap];0.93[CHB][hapmap];0.87[JPT][hapmap];0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11236515	0.81[CEU][hapmap];0.93[CHB][hapmap];0.87[JPT][hapmap];0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11236516	0.81[CEU][hapmap];0.93[CHB][hapmap];0.87[JPT][hapmap];0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11236517	0.93[CHB][hapmap];0.81[JPT][hapmap];0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11236518	0.81[CEU][hapmap];0.93[CHB][hapmap];0.87[JPT][hapmap];0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11236519	0.94[ASN][1000 genomes]
rs11236525	0.82[AMR][1000 genomes]
rs11236527	0.94[ASN][1000 genomes]
rs11236528	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11236530	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11236531	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11236533	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11236534	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11236537	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11236538	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11236539	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11236540	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11236542	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11236543	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11236545	1.00[CEU][hapmap];0.86[CHB][hapmap];0.93[JPT][hapmap];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11236546	1.00[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11236549	1.00[CEU][hapmap];0.85[CHB][hapmap];0.83[JPT][hapmap];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11236551	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11236552	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11236553	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11236554	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11236555	0.91[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11236564	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11501918	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11821808	0.88[ASN][1000 genomes]
rs11822903	0.80[CEU][hapmap];0.92[CHB][hapmap];0.83[JPT][hapmap];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11823869	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]
rs12222542	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12222995	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12223234	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12224062	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12278224	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12278257	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12280456	0.83[CEU][hapmap];0.87[JPT][hapmap];0.81[ASN][1000 genomes]
rs12280464	0.90[CEU][hapmap];0.87[JPT][hapmap]
rs12285853	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1458836	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17134394	1.00[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2004638	0.83[CEU][hapmap]
rs2008476	0.90[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2168947	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs3060	1.00[CEU][hapmap];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3740849	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3740850	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs531117	0.81[CHB][hapmap]
rs58340821	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58411334	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs60677263	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60692776	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs643884	0.81[CHB][hapmap]
rs644361	0.81[CHB][hapmap]
rs6592615	1.00[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs66784596	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67233017	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67268976	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7101806	1.00[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7106736	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7107742	1.00[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7108178	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7110517	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7118039	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7118293	0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7118569	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7122123	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7126727	0.91[CEU][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7128716	0.89[CEU][hapmap];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72995678	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs72997616	0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs72997623	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72997677	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7933235	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7937642	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7944950	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7947418	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7947512	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3381903	chr11:75123498-75587233	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
2	nsv897924	chr11:75424546-75678647	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv897925	chr11:75456134-75556323	Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10899119	DGAT2	cis	Whole Blood	GTEx
rs10899119	RP11-535A19.1	cis	Whole Blood	GTEx

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75480600-75488600	Weak transcription	Gastric	stomach
2	chr11:75480600-75491200	Weak transcription	Pancreas	Pancrea
3	chr11:75480600-75491400	Weak transcription	Right Ventricle	heart
4	chr11:75480600-75496400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr11:75480800-75485800	Weak transcription	Right Atrium	heart
6	chr11:75480800-75486800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
7	chr11:75481000-75491600	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr11:75481000-75506600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr11:75481400-75493800	Weak transcription	Stomach Mucosa	stomach
10	chr11:75481800-75500800	Weak transcription	Esophagus	oesophagus
11	chr11:75482200-75485600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr11:75482400-75485400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr11:75482400-75490200	Weak transcription	Brain Anterior Caudate	brain
14	chr11:75482600-75485400	Enhancers	Spleen	Spleen
15	chr11:75482800-75485600	Weak transcription	Fetal Intestine Large	intestine
16	chr11:75483000-75486800	Enhancers	Primary B cells from peripheral blood	blood
17	chr11:75483000-75494200	Strong transcription	Fetal Intestine Small	intestine
18	chr11:75483000-75494800	Weak transcription	Duodenum Mucosa	Duodenum
19	chr11:75483200-75488200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr11:75483200-75488400	Weak transcription	HMEC	breast
21	chr11:75483400-75485600	Weak transcription	Lung	lung
22	chr11:75483400-75485800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
23	chr11:75484000-75485400	Flanking Active TSS	GM12878-XiMat	blood
24	chr11:75484200-75485400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr11:75484200-75486000	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr11:75484200-75486000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr11:75484400-75485600	Flanking Active TSS	Primary B cells from cord blood	blood
28	chr11:75484400-75488600	Weak transcription	Fetal Thymus	thymus
29	chr11:75484400-75489600	Genic enhancers	Liver	Liver
30	chr11:75484600-75485800	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr11:75484600-75489600	Strong transcription	HepG2	liver
32	chr11:75484800-75503800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr11:75485000-75485400	Flanking Active TSS	Adipose Nuclei	Adipose
34	chr11:75485000-75488400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr11:75485200-75486000	Enhancers	Primary hematopoietic stem cells	blood
36	chr11:75485200-75488000	Weak transcription	HUVEC	blood vessel
37	chr11:75485200-75488400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr11:75485200-75488400	Weak transcription	K562	blood

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