Variant report

Variant	rs60692776
Chromosome Location	chr11:75523414-75523415
allele	C/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	FOXA1	chr11:75523363-75524065	HepG2	liver:	n/a	n/a
2	FOXA2	chr11:75523273-75524140	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:75520218..75523701-chr11:75523941..75527681,4	K562	blood:
2	chr11:75523255..75528239-chr11:75549898..75558151,19	MCF-7	breast:
3	chr11:75507903..75509753-chr11:75522846..75525543,2	MCF-7	breast:
4	chr11:75522755..75529746-chr11:75549090..75554652,13	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255507	TF binding region
UVRAG	TF binding region
ENSG00000255507	Chromatin interaction
ENSG00000198382	Chromatin interaction

Extended variants
information (count: 99 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:96)

rs_ID	r²[population]
rs1017713	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10219339	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10793127	0.85[ASN][1000 genomes]
rs10793132	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10793133	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10793135	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10899113	0.85[ASN][1000 genomes]
rs10899116	0.86[ASN][1000 genomes]
rs10899119	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10899120	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10899121	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10899122	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10899123	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10899124	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10899127	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10899128	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10899129	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10899131	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10899132	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10899133	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10899134	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10899135	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10899136	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10899137	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10899138	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10899139	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10899140	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10899141	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10899142	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10899144	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10899145	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11236519	0.85[ASN][1000 genomes]
rs11236527	0.85[ASN][1000 genomes]
rs11236528	0.85[ASN][1000 genomes]
rs11236530	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11236531	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11236533	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11236534	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11236537	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11236538	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11236539	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11236540	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11236542	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11236543	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11236545	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11236546	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11236549	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11236551	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11236552	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11236553	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11236554	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11236555	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11236564	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11501918	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11822903	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11823869	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12222542	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12222995	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12223234	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12224062	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12278224	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12278257	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12285853	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1458836	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17134394	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2008476	0.85[ASN][1000 genomes]
rs2168947	0.82[EUR][1000 genomes]
rs3060	0.87[EUR][1000 genomes]
rs3740849	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3740850	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58340821	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58411334	0.85[ASN][1000 genomes]
rs60677263	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6592615	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs66784596	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67233017	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67268976	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7101806	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7106736	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7107742	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7108178	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7110517	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7118039	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7118293	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7118569	0.87[EUR][1000 genomes]
rs7122123	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7126727	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7128716	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72997616	0.85[ASN][1000 genomes]
rs72997623	0.90[ASN][1000 genomes]
rs72997677	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7933235	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7937642	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7944950	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7947418	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7947512	0.82[EUR][1000 genomes];0.92[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
rs60692776	RP11-535A19.1	cis	Whole Blood	GTEx
rs60692776	DGAT2	cis	Whole Blood	GTEx

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75509000-75525200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:75509800-75525000	Weak transcription	Fetal Stomach	stomach
3	chr11:75512800-75523800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr11:75512800-75525000	Weak transcription	Esophagus	oesophagus
5	chr11:75513000-75525200	Weak transcription	Fetal Intestine Large	intestine
6	chr11:75513400-75524600	Weak transcription	Primary T cells from cord blood	blood
7	chr11:75513400-75525000	Weak transcription	Stomach Smooth Muscle	stomach
8	chr11:75513800-75525000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr11:75514400-75524600	Weak transcription	Fetal Intestine Small	intestine
10	chr11:75520200-75524400	Enhancers	Adipose Nuclei	Adipose
11	chr11:75520600-75525000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr11:75520600-75525000	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr11:75521400-75525400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr11:75521600-75523600	Enhancers	HepG2	liver
15	chr11:75521800-75524800	Weak transcription	Primary B cells from cord blood	blood
16	chr11:75522000-75525200	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr11:75522200-75523600	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr11:75522200-75523600	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr11:75522200-75525000	Weak transcription	Lung	lung
20	chr11:75522400-75523800	Weak transcription	Placenta	Placenta
21	chr11:75522400-75524400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr11:75522400-75524800	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr11:75522400-75525400	Weak transcription	Spleen	Spleen
24	chr11:75522600-75524000	Weak transcription	Primary B cells from peripheral blood	blood
25	chr11:75522800-75523600	Weak transcription	Fetal Thymus	thymus
26	chr11:75522800-75524000	Weak transcription	K562	blood
27	chr11:75522800-75525000	Weak transcription	Duodenum Mucosa	Duodenum
28	chr11:75522800-75525200	Weak transcription	Liver	Liver
29	chr11:75523000-75524600	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr11:75523000-75524800	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr11:75523200-75524600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr11:75523400-75523600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr11:75523400-75523600	Enhancers	Hela-S3	cervix
34	chr11:75523400-75525600	Flanking Active TSS	GM12878-XiMat	blood

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