Variant report

Variant	rs72997623
Chromosome Location	chr11:75488054-75488055
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:75481614..75484902-chr11:75487270..75489569,3	K562	blood:
2	chr11:75336861..75338486-chr11:75486954..75489914,2	K562	blood:
3	chr11:75487408..75492823-chr11:75500616..75503044,5	MCF-7	breast:

Extended variants
information (count: 112 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:109)

rs_ID	r²[population]
rs1017713	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10219339	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10793124	0.86[ASN][1000 genomes]
rs10793125	0.86[ASN][1000 genomes]
rs10793126	0.86[ASN][1000 genomes]
rs10793127	0.92[ASN][1000 genomes]
rs10793132	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10793133	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10793135	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10899109	0.86[ASN][1000 genomes]
rs10899110	0.86[ASN][1000 genomes]
rs10899113	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10899116	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10899118	0.92[EUR][1000 genomes]
rs10899119	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10899120	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10899121	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10899122	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10899123	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10899124	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10899127	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10899128	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10899129	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10899131	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10899132	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10899133	0.95[ASN][1000 genomes]
rs10899134	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10899135	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10899136	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10899137	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10899138	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10899139	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10899140	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10899141	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10899142	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10899144	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10899145	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11236511	0.80[ASN][1000 genomes]
rs11236514	0.86[ASN][1000 genomes]
rs11236515	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11236516	0.86[ASN][1000 genomes]
rs11236517	0.84[ASN][1000 genomes]
rs11236518	0.86[ASN][1000 genomes]
rs11236519	0.92[ASN][1000 genomes]
rs11236527	0.92[ASN][1000 genomes]
rs11236528	0.92[ASN][1000 genomes]
rs11236530	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11236531	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11236533	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11236534	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11236537	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11236538	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11236539	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11236540	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11236542	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11236543	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11236545	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11236546	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11236549	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11236551	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11236552	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11236553	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11236554	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11236555	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11236564	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11501918	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11821808	0.86[ASN][1000 genomes]
rs11822903	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11823869	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12222542	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12222995	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12223234	0.81[ASN][1000 genomes]
rs12224062	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12278224	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12278257	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12285853	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1458836	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17134394	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2008476	0.92[ASN][1000 genomes]
rs2168947	0.88[EUR][1000 genomes]
rs3060	0.83[EUR][1000 genomes]
rs3740849	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3740850	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58340821	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58411334	0.92[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs60677263	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60692776	0.90[ASN][1000 genomes]
rs6592615	0.91[ASN][1000 genomes]
rs66784596	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs67233017	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs67268976	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7101806	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7106736	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7107742	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7108178	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7110517	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7118039	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7118293	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7118569	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7122123	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7126727	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7128716	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72997616	0.92[ASN][1000 genomes]
rs72997677	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7933235	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7937642	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7944950	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7947418	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7947512	0.95[EUR][1000 genomes];0.98[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
rs72997623	RP11-535A19.1	cis	Whole Blood	GTEx
rs72997623	DGAT2	cis	Whole Blood	GTEx

Chromatin state (count:36 , 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	chr11:75481000-75491600	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr11:75481000-75506600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr11:75481400-75493800	Weak transcription	Stomach Mucosa	stomach
8	chr11:75481800-75500800	Weak transcription	Esophagus	oesophagus
9	chr11:75482400-75490200	Weak transcription	Brain Anterior Caudate	brain
10	chr11:75483000-75494200	Strong transcription	Fetal Intestine Small	intestine
11	chr11:75483000-75494800	Weak transcription	Duodenum Mucosa	Duodenum
12	chr11:75483200-75488200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr11:75483200-75488400	Weak transcription	HMEC	breast
14	chr11:75484400-75488600	Weak transcription	Fetal Thymus	thymus
15	chr11:75484400-75489600	Genic enhancers	Liver	Liver
16	chr11:75484600-75489600	Strong transcription	HepG2	liver
17	chr11:75484800-75503800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr11:75485000-75488400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr11:75485200-75488400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr11:75485200-75488400	Weak transcription	K562	blood
21	chr11:75485400-75488400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr11:75485600-75491600	Enhancers	Primary B cells from cord blood	blood
23	chr11:75485800-75488200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr11:75485800-75488400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr11:75486000-75488200	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr11:75486000-75491200	Weak transcription	Fetal Intestine Large	intestine
27	chr11:75486400-75488400	Weak transcription	GM12878-XiMat	blood
28	chr11:75486600-75488200	Weak transcription	Primary hematopoietic stem cells	blood
29	chr11:75486600-75495000	Genic enhancers	Adipose Nuclei	Adipose
30	chr11:75487400-75489000	Enhancers	Spleen	Spleen
31	chr11:75487400-75489400	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr11:75487400-75489400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr11:75487600-75488800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr11:75487800-75489600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
35	chr11:75488000-75489200	Enhancers	HUVEC	blood vessel
36	chr11:75488000-75489600	Genic enhancers	Primary B cells from peripheral blood	blood

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