Variant report

Variant	rs2168947
Chromosome Location	chr11:75494821-75494822
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	EP300	chr11:75494803-75495480	HepG2	liver:	n/a	n/a
2	POLR2A	chr11:75493348-75495520	HepG2	liver:	n/a	n/a
3	RCOR1	chr11:75494576-75495498	HepG2	liver:	n/a	n/a
4	HEY1	chr11:75494470-75494878	HepG2	liver:	n/a	n/a
5	RFX5	chr11:75494801-75495249	HepG2	liver:	n/a	n/a
6	SP1	chr11:75494666-75495591	HepG2	liver:	n/a	chr11:75495104-75495118 chr11:75495108-75495117 chr11:75495108-75495118
7	HNF4A	chr11:75494812-75495587	HepG2	liver:	n/a	chr11:75494841-75494849 chr11:75495188-75495203
8	EP300	chr11:75493493-75495677	HepG2	liver:	n/a	n/a
9	HNF4G	chr11:75494765-75495516	HepG2	liver:	n/a	chr11:75494841-75494849
10	POLR2A	chr11:75494622-75494891	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:75493435..75496040-chr11:75505908..75507945,2	MCF-7	breast:

Variant related genes	Relation type
DGAT2	TF binding region
ENSG00000062282	Chromatin interaction

Extended variants
information (count: 120 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:117)

rs_ID	r²[population]
rs10160802	0.90[CEU][hapmap];0.94[CHB][hapmap];0.92[MEX][hapmap];0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1017713	1.00[CEU][hapmap];0.90[TSI][hapmap];0.90[EUR][1000 genomes]
rs10219339	1.00[CEU][hapmap];0.84[MEX][hapmap];0.90[TSI][hapmap];0.92[EUR][1000 genomes]
rs10793124	0.81[CEU][hapmap]
rs10793125	0.81[CEU][hapmap]
rs10793126	0.85[AMR][1000 genomes]
rs10793132	1.00[CEU][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs10793133	0.90[EUR][1000 genomes]
rs10793135	1.00[CEU][hapmap];0.81[TSI][hapmap];0.87[EUR][1000 genomes]
rs10899110	0.81[CEU][hapmap]
rs10899112	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10899114	0.90[CEU][hapmap];0.94[CHB][hapmap];0.92[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10899115	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10899116	0.90[CEU][hapmap];0.81[TSI][hapmap]
rs10899118	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.93[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10899119	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs10899120	0.92[EUR][1000 genomes]
rs10899121	1.00[CEU][hapmap];1.00[GIH][hapmap];0.90[TSI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10899122	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10899123	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10899124	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs10899127	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10899128	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10899129	1.00[CEU][hapmap];0.81[TSI][hapmap];0.90[EUR][1000 genomes]
rs10899131	0.90[EUR][1000 genomes]
rs10899132	0.90[EUR][1000 genomes]
rs10899134	1.00[CEU][hapmap];0.81[TSI][hapmap];0.90[EUR][1000 genomes]
rs10899135	0.90[EUR][1000 genomes]
rs10899136	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs10899137	0.90[EUR][1000 genomes]
rs10899138	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs10899139	0.85[EUR][1000 genomes]
rs10899140	0.87[EUR][1000 genomes]
rs10899141	1.00[CEU][hapmap];0.81[TSI][hapmap];0.87[EUR][1000 genomes]
rs10899142	0.88[EUR][1000 genomes]
rs10899144	0.85[EUR][1000 genomes]
rs10899145	1.00[CEU][hapmap];0.87[LWK][hapmap];0.92[MEX][hapmap];0.81[TSI][hapmap];0.83[YRI][hapmap];0.88[EUR][1000 genomes]
rs11236511	0.85[MEX][hapmap]
rs11236514	0.81[CEU][hapmap];0.85[MEX][hapmap]
rs11236515	0.81[CEU][hapmap]
rs11236516	0.81[CEU][hapmap];0.85[MEX][hapmap]
rs11236517	0.85[MEX][hapmap]
rs11236518	0.81[CEU][hapmap];0.85[MEX][hapmap]
rs11236525	0.84[ASN][1000 genomes]
rs11236526	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11236527	0.85[AMR][1000 genomes]
rs11236530	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs11236531	1.00[CEU][hapmap];1.00[GIH][hapmap];0.84[MEX][hapmap];0.90[TSI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11236533	1.00[CEU][hapmap];0.81[TSI][hapmap];0.90[EUR][1000 genomes]
rs11236534	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs11236537	0.88[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs11236538	0.87[EUR][1000 genomes]
rs11236539	0.90[EUR][1000 genomes]
rs11236540	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.87[LWK][hapmap];0.92[MEX][hapmap];0.81[TSI][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11236542	0.88[EUR][1000 genomes]
rs11236543	0.88[EUR][1000 genomes]
rs11236545	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs11236546	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs11236549	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs11236551	0.87[EUR][1000 genomes]
rs11236552	1.00[CEU][hapmap];0.81[TSI][hapmap];0.87[EUR][1000 genomes]
rs11236553	1.00[CEU][hapmap];0.81[TSI][hapmap];0.87[EUR][1000 genomes]
rs11236554	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs11236555	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs11236564	0.83[EUR][1000 genomes]
rs11501918	0.90[EUR][1000 genomes]
rs11822903	0.88[CEU][hapmap];0.95[YRI][hapmap];0.88[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs11823869	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs1219549	0.87[ASN][1000 genomes]
rs1219550	0.87[ASN][1000 genomes]
rs12222542	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12222995	1.00[CEU][hapmap];0.90[TSI][hapmap];0.92[EUR][1000 genomes]
rs12223234	0.84[EUR][1000 genomes]
rs12224062	0.85[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs12278224	1.00[CEU][hapmap];1.00[GIH][hapmap];0.87[LWK][hapmap];0.92[MEX][hapmap];0.81[TSI][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs12278257	1.00[CEU][hapmap];0.81[TSI][hapmap];0.87[EUR][1000 genomes]
rs12280456	0.90[CEU][hapmap]
rs12280464	0.90[CEU][hapmap]
rs12285853	0.90[EUR][1000 genomes]
rs1458836	1.00[CEU][hapmap];0.81[TSI][hapmap];0.90[EUR][1000 genomes]
rs17134394	1.00[CEU][hapmap];0.92[MEX][hapmap];0.81[TSI][hapmap];0.88[EUR][1000 genomes]
rs1806895	0.92[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2004638	0.90[CEU][hapmap]
rs2008476	0.90[CEU][hapmap];0.92[MEX][hapmap];0.81[AMR][1000 genomes]
rs3060	0.83[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[GIH][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3740849	1.00[CEU][hapmap];1.00[GIH][hapmap];0.87[LWK][hapmap];0.92[MEX][hapmap];0.81[TSI][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs3740850	1.00[CEU][hapmap];0.81[TSI][hapmap];0.90[EUR][1000 genomes]
rs498936	0.87[ASN][1000 genomes]
rs531117	0.80[MEX][hapmap]
rs57188913	0.92[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs58340821	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs59913369	0.92[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs60677263	0.90[EUR][1000 genomes]
rs60692776	0.82[EUR][1000 genomes]
rs6592615	1.00[CEU][hapmap];1.00[GIH][hapmap];0.92[MEX][hapmap];0.81[TSI][hapmap];0.85[EUR][1000 genomes]
rs66784596	0.88[EUR][1000 genomes]
rs67233017	0.87[EUR][1000 genomes]
rs67268976	0.88[EUR][1000 genomes]
rs695110	0.81[ASN][1000 genomes]
rs7101806	1.00[CEU][hapmap];1.00[GIH][hapmap];0.81[TSI][hapmap];0.88[EUR][1000 genomes]
rs7106736	0.86[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs7107742	1.00[CEU][hapmap];0.85[LWK][hapmap];0.92[MEX][hapmap];0.81[TSI][hapmap];0.83[YRI][hapmap];0.88[EUR][1000 genomes]
rs7108178	1.00[CEU][hapmap];1.00[GIH][hapmap];0.87[LWK][hapmap];0.92[MEX][hapmap];0.81[TSI][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs7110517	0.88[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs7118039	1.00[CEU][hapmap];1.00[GIH][hapmap];0.81[TSI][hapmap];0.88[EUR][1000 genomes]
rs7118293	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7118569	0.89[EUR][1000 genomes]
rs7122123	0.88[EUR][1000 genomes]
rs7126727	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs7128716	0.88[CEU][hapmap];0.90[EUR][1000 genomes]
rs72997623	0.88[EUR][1000 genomes]
rs72997677	0.87[EUR][1000 genomes]
rs7933235	1.00[CEU][hapmap];1.00[GIH][hapmap];0.89[LWK][hapmap];0.92[MEX][hapmap];0.81[TSI][hapmap];0.93[YRI][hapmap];0.82[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs7937642	0.87[EUR][1000 genomes]
rs7944950	0.90[EUR][1000 genomes]
rs7947418	1.00[CEU][hapmap];1.00[GIH][hapmap];0.81[TSI][hapmap];0.88[EUR][1000 genomes]
rs7947512	0.92[AMR][1000 genomes];0.93[EUR][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
rs2168947	RP11-535A19.1	cis	Whole Blood	GTEx

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75480600-75496400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr11:75481000-75506600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr11:75481800-75500800	Weak transcription	Esophagus	oesophagus
4	chr11:75484800-75503800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr11:75486600-75495000	Genic enhancers	Adipose Nuclei	Adipose
6	chr11:75489000-75498400	Weak transcription	Spleen	Spleen
7	chr11:75489200-75498800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr11:75489200-75508200	Weak transcription	GM12878-XiMat	blood
9	chr11:75489600-75495400	Enhancers	Liver	Liver
10	chr11:75490800-75504600	Weak transcription	Fetal Stomach	stomach
11	chr11:75491400-75496600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr11:75491600-75495600	Weak transcription	Primary B cells from cord blood	blood
13	chr11:75492000-75495400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr11:75492000-75496200	Weak transcription	Primary B cells from peripheral blood	blood
15	chr11:75492000-75503600	Weak transcription	Right Ventricle	heart
16	chr11:75493000-75504400	Weak transcription	Brain Anterior Caudate	brain
17	chr11:75493600-75495600	Flanking Active TSS	HepG2	liver
18	chr11:75493800-75495600	Enhancers	Fetal Intestine Large	intestine
19	chr11:75493800-75498800	Enhancers	Stomach Mucosa	stomach
20	chr11:75494000-75495000	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr11:75494000-75495600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr11:75494200-75499200	Genic enhancers	Fetal Intestine Small	intestine
23	chr11:75494400-75495400	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr11:75494600-75495400	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr11:75494600-75495800	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr11:75494600-75495800	Enhancers	Pancreas	Pancrea
27	chr11:75494800-75496000	Enhancers	Gastric	stomach
28	chr11:75494800-75498800	Enhancers	Duodenum Mucosa	Duodenum

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