Variant report

Variant	rs7947512
Chromosome Location	chr11:75483905-75483906
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MTA3	chr11:75483828-75485240	GM12878	blood:	n/a	n/a
2	EP300	chr11:75483889-75484168	GM12878	blood:	n/a	n/a
3	PAX5	chr11:75483827-75484215	GM12878	blood:	n/a	n/a
4	PAX5	chr11:75483877-75484129	GM12878	blood:	n/a	n/a
5	PAX5	chr11:75483798-75484369	GM12878	blood:	n/a	n/a
6	BATF	chr11:75483833-75484186	GM12878	blood:	n/a	n/a
7	PAX5	chr11:75483726-75484325	GM12878	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:75272393..75274848-chr11:75481940..75484521,2	MCF-7	breast:
2	chr11:75481614..75484902-chr11:75487270..75489569,3	K562	blood:
3	chr11:75482948..75485726-chr11:75491815..75493587,2	K562	blood:
4	chr11:75479733..75481586-chr11:75483249..75484931,2	K562	blood:
5	chr11:75479282..75481785-chr11:75482674..75485618,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000254826	TF binding region
ENSG00000247867	TF binding region
ENSG00000062282	Chromatin interaction
ENSG00000247867	Chromatin interaction
ENSG00000149257	Chromatin interaction

Extended variants
information (count: 126 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:123)

rs_ID	r²[population]
rs10160802	0.80[AMR][1000 genomes]
rs1017713	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10219339	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10793124	0.88[ASN][1000 genomes]
rs10793125	0.88[ASN][1000 genomes]
rs10793126	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10793127	0.94[ASN][1000 genomes]
rs10793132	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10793133	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10793135	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10899105	0.81[ASN][1000 genomes]
rs10899109	0.88[ASN][1000 genomes]
rs10899110	0.88[ASN][1000 genomes]
rs10899112	0.80[AMR][1000 genomes]
rs10899113	0.94[ASN][1000 genomes]
rs10899114	0.92[AMR][1000 genomes]
rs10899115	0.84[AMR][1000 genomes]
rs10899116	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10899118	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10899119	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10899120	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10899121	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10899122	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10899123	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10899124	0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10899127	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10899128	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10899129	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10899131	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10899132	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10899133	0.97[ASN][1000 genomes]
rs10899134	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10899135	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10899136	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10899137	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10899138	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10899139	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10899140	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10899141	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10899142	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10899144	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10899145	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11236507	0.80[ASN][1000 genomes]
rs11236508	0.81[ASN][1000 genomes]
rs11236509	0.81[ASN][1000 genomes]
rs11236511	0.82[ASN][1000 genomes]
rs11236514	0.88[ASN][1000 genomes]
rs11236515	0.88[ASN][1000 genomes]
rs11236516	0.88[ASN][1000 genomes]
rs11236517	0.86[ASN][1000 genomes]
rs11236518	0.88[ASN][1000 genomes]
rs11236519	0.94[ASN][1000 genomes]
rs11236526	0.84[AMR][1000 genomes]
rs11236527	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11236528	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11236530	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11236531	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11236533	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11236534	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11236537	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11236538	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11236539	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11236540	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11236542	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11236543	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11236545	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11236546	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11236549	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11236551	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11236552	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11236553	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11236554	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11236555	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11236564	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11501918	0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11821808	0.88[ASN][1000 genomes]
rs11822903	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11823869	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12222542	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12222995	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12223234	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12224062	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12278224	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12278257	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12280456	0.81[ASN][1000 genomes]
rs12285853	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1458836	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17134394	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1806895	0.92[AMR][1000 genomes]
rs2008476	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2168947	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3060	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3740849	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3740850	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57188913	0.92[AMR][1000 genomes]
rs58340821	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58411334	0.94[ASN][1000 genomes]
rs59913369	0.92[AMR][1000 genomes]
rs60677263	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60692776	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6592615	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs66784596	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67233017	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67268976	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7101806	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7106736	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7107742	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7108178	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7110517	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7118039	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7118293	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7118569	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7122123	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7126727	0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7128716	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72995678	0.81[ASN][1000 genomes]
rs72997616	0.94[ASN][1000 genomes]
rs72997623	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72997677	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7933235	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7937642	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7944950	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7947418	0.88[EUR][1000 genomes];0.93[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7947512	RP11-535A19.1	cis	Whole Blood	GTEx

Chromatin state (count:33 , 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	chr11:75481600-75484800	Weak transcription	Brain Cingulate Gyrus	brain
11	chr11:75481800-75500800	Weak transcription	Esophagus	oesophagus
12	chr11:75482200-75484000	Enhancers	GM12878-XiMat	blood
13	chr11:75482200-75485600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr11:75482400-75485400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr11:75482400-75490200	Weak transcription	Brain Anterior Caudate	brain
16	chr11:75482600-75484400	Enhancers	Liver	Liver
17	chr11:75482600-75485400	Enhancers	Spleen	Spleen
18	chr11:75482800-75484600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr11:75482800-75485600	Weak transcription	Fetal Intestine Large	intestine
20	chr11:75483000-75485200	Enhancers	K562	blood
21	chr11:75483000-75486800	Enhancers	Primary B cells from peripheral blood	blood
22	chr11:75483000-75494200	Strong transcription	Fetal Intestine Small	intestine
23	chr11:75483000-75494800	Weak transcription	Duodenum Mucosa	Duodenum
24	chr11:75483200-75484400	Enhancers	Primary B cells from cord blood	blood
25	chr11:75483200-75488200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr11:75483200-75488400	Weak transcription	HMEC	breast
27	chr11:75483400-75484200	Weak transcription	Fetal Thymus	thymus
28	chr11:75483400-75485600	Weak transcription	Lung	lung
29	chr11:75483400-75485800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
30	chr11:75483600-75484200	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr11:75483600-75484600	Weak transcription	HepG2	liver
32	chr11:75483800-75484000	Enhancers	Adipose Nuclei	Adipose
33	chr11:75483800-75484400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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