Variant report

Variant	rs7944950
Chromosome Location	chr11:75505827-75505828
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:75505538..75510533-chr11:75511527..75514992,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254814	Chromatin interaction

Extended variants
information (count: 124 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:121)

rs_ID	r²[population]
rs10160802	0.89[AMR][1000 genomes]
rs1017713	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10219339	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10793124	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10793125	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10793126	0.88[ASN][1000 genomes]
rs10793127	0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10793128	0.84[AMR][1000 genomes]
rs10793129	0.82[AMR][1000 genomes]
rs10793132	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10793133	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10793135	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10899105	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10899109	0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10899110	0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10899112	0.89[AMR][1000 genomes]
rs10899113	0.95[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10899115	0.85[AMR][1000 genomes]
rs10899116	0.91[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10899118	0.87[EUR][1000 genomes]
rs10899119	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10899120	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10899121	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10899122	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10899123	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10899124	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10899127	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10899128	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10899129	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10899131	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10899132	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10899133	0.97[ASN][1000 genomes]
rs10899134	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10899135	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10899136	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10899137	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10899138	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10899139	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10899140	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10899141	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10899142	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10899144	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10899145	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11236507	0.80[ASN][1000 genomes]
rs11236508	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11236509	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11236511	0.82[ASN][1000 genomes]
rs11236514	0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11236515	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11236516	0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11236517	0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11236518	0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11236519	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11236525	0.82[AMR][1000 genomes]
rs11236527	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11236528	0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11236530	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11236531	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11236533	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11236534	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11236537	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11236538	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11236539	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11236540	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11236542	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11236543	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11236545	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11236546	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11236549	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11236551	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11236552	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11236553	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11236554	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11236555	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11236564	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11501918	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11821808	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11822903	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11823869	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12222542	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12222995	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12223234	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12224062	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12278224	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12278257	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12280456	0.81[ASN][1000 genomes]
rs12285853	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1458836	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17134394	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2008476	0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2168947	0.90[EUR][1000 genomes]
rs3060	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3740849	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3740850	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58340821	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58411334	0.94[ASN][1000 genomes]
rs60677263	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60692776	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6592615	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs66784596	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67233017	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67268976	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7101806	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7106736	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7107742	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7108178	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7110517	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7118039	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7118293	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7118569	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7122123	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7126727	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7128716	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72995678	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs72997616	0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs72997623	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72997677	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7933235	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7937642	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7947418	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7947512	0.90[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
rs7944950	DGAT2	cis	Whole Blood	GTEx
rs7944950	RP11-535A19.1	cis	Whole Blood	GTEx

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75481000-75506600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr11:75489200-75508200	Weak transcription	GM12878-XiMat	blood
3	chr11:75495000-75511200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr11:75495400-75506400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr11:75495400-75512000	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr11:75496200-75514800	Strong transcription	Primary neutrophils fromperipheralblood	blood
7	chr11:75496800-75514400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:75497600-75509400	Weak transcription	Primary B cells from cord blood	blood
9	chr11:75497800-75508200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr11:75497800-75514200	Weak transcription	Gastric	stomach
11	chr11:75498000-75507600	Weak transcription	Primary B cells from peripheral blood	blood
12	chr11:75498800-75506600	Weak transcription	Duodenum Mucosa	Duodenum
13	chr11:75498800-75511600	Weak transcription	Stomach Mucosa	stomach
14	chr11:75499000-75512000	Weak transcription	Lung	lung
15	chr11:75499200-75506400	Strong transcription	Fetal Intestine Small	intestine
16	chr11:75499200-75507600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr11:75501400-75507000	Weak transcription	Spleen	Spleen
18	chr11:75501800-75513200	Weak transcription	Stomach Smooth Muscle	stomach
19	chr11:75502400-75511200	Weak transcription	Esophagus	oesophagus
20	chr11:75502600-75506400	Weak transcription	NHEK	skin
21	chr11:75503400-75509800	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr11:75503800-75507600	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr11:75504200-75507200	Enhancers	Liver	Liver
24	chr11:75504400-75506200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr11:75504400-75506400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr11:75504400-75508400	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr11:75504400-75512000	Weak transcription	Right Atrium	heart
28	chr11:75504600-75506200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr11:75504600-75506400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr11:75504800-75506400	Weak transcription	Right Ventricle	heart
31	chr11:75504800-75506400	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr11:75504800-75506400	Weak transcription	HMEC	breast
33	chr11:75504800-75506800	Weak transcription	Fetal Stomach	stomach
34	chr11:75504800-75510200	Weak transcription	Fetal Thymus	thymus
35	chr11:75505000-75512200	Weak transcription	Fetal Muscle Leg	muscle
36	chr11:75505200-75506600	Weak transcription	Brain Anterior Caudate	brain
37	chr11:75505200-75506600	Weak transcription	Fetal Intestine Large	intestine
38	chr11:75505200-75506800	Enhancers	HepG2	liver
39	chr11:75505400-75506200	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr11:75505400-75506400	Weak transcription	Adipose Nuclei	Adipose
41	chr11:75505400-75506400	Weak transcription	Pancreas	Pancrea
42	chr11:75505400-75506600	Weak transcription	Fetal Brain Female	brain
43	chr11:75505400-75506600	Weak transcription	Left Ventricle	heart
44	chr11:75505600-75509600	Weak transcription	Fetal Heart	heart
45	chr11:75505800-75506200	Weak transcription	Skeletal Muscle Male	skeletal muscle

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