Variant report

Variant	rs72937454
Chromosome Location	chr11:36219811-36219812
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 124 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11033500	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11033501	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11033503	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11033504	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11033508	0.80[EUR][1000 genomes]
rs11551023	0.85[EUR][1000 genomes]
rs11600365	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11601619	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11602141	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11602754	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11603025	0.85[EUR][1000 genomes]
rs11603810	0.85[EUR][1000 genomes]
rs11604341	0.85[EUR][1000 genomes]
rs11604381	0.85[EUR][1000 genomes]
rs11604397	0.85[EUR][1000 genomes]
rs11604998	0.92[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11605921	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11605927	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11605931	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11605941	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11606074	0.96[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11606476	0.83[EUR][1000 genomes]
rs11606598	0.85[EUR][1000 genomes]
rs11607231	0.85[EUR][1000 genomes]
rs12420852	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12421151	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12421199	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12421400	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12574172	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12574173	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12574419	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12574525	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12575304	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12575540	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12575617	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12575645	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12577437	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1374376	0.88[ASN][1000 genomes]
rs1405095	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1526058	0.85[EUR][1000 genomes]
rs1526059	0.85[EUR][1000 genomes]
rs16928506	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16928509	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16928510	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16928513	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16928514	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16928552	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2289980	0.85[EUR][1000 genomes]
rs2289981	0.85[EUR][1000 genomes]
rs34213469	0.85[EUR][1000 genomes]
rs34892666	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3812769	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3812771	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3812772	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3980393	0.88[ASN][1000 genomes]
rs4417242	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4417243	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4468324	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4485080	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4611176	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs58048041	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs58356552	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs58648806	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs58707777	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs59051429	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs59137935	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs59307065	0.85[EUR][1000 genomes]
rs60008257	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs60544801	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs60759289	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs60823142	0.85[EUR][1000 genomes]
rs61254236	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs61879011	0.96[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs61879013	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61879034	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61879035	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61879036	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61879037	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61879038	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61879039	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61879040	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61879041	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61879261	0.85[EUR][1000 genomes]
rs61879262	0.85[EUR][1000 genomes]
rs61879263	0.82[EUR][1000 genomes]
rs61879264	0.85[EUR][1000 genomes]
rs61879265	0.85[EUR][1000 genomes]
rs61879266	0.85[EUR][1000 genomes]
rs61879267	0.85[EUR][1000 genomes]
rs61879268	0.85[EUR][1000 genomes]
rs61879269	0.85[EUR][1000 genomes]
rs61879270	0.85[EUR][1000 genomes]
rs61879271	0.85[EUR][1000 genomes]
rs61879272	0.85[EUR][1000 genomes]
rs61879273	0.85[EUR][1000 genomes]
rs61879274	0.85[EUR][1000 genomes]
rs61879275	0.85[EUR][1000 genomes]
rs61879277	0.83[EUR][1000 genomes]
rs61879278	0.83[EUR][1000 genomes]
rs61879279	0.85[EUR][1000 genomes]
rs61881463	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61881464	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61881465	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs61881468	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs61881469	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs61881470	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs61881476	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs61881477	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61881478	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61881481	0.85[EUR][1000 genomes]
rs61881484	0.85[EUR][1000 genomes]
rs61881485	0.85[EUR][1000 genomes]
rs61881486	0.85[EUR][1000 genomes]
rs61881487	0.85[EUR][1000 genomes]
rs7110064	0.89[EUR][1000 genomes]
rs72937449	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72937494	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72941791	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs872534	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs921085	0.85[EUR][1000 genomes]
rs940923	0.96[AMR][1000 genomes];0.94[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	nsv467791	chr11:36108497-36999385	Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv554003	chr11:36108497-36999385	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv897225	chr11:36136912-36244190	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36184400-36220000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr11:36200400-36223800	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr11:36207800-36222800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr11:36208400-36220000	Weak transcription	Esophagus	oesophagus
5	chr11:36208600-36220000	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr11:36208600-36220000	Weak transcription	NHEK	skin
7	chr11:36208600-36231600	Weak transcription	HMEC	breast
8	chr11:36212400-36225800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr11:36216600-36231600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr11:36217400-36222400	Weak transcription	Left Ventricle	heart
11	chr11:36217600-36220600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr11:36217600-36223000	Weak transcription	Colon Smooth Muscle	Colon
13	chr11:36217800-36226400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr11:36218000-36222400	Weak transcription	Brain Anterior Caudate	brain
15	chr11:36218000-36233400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr11:36218000-36252200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr11:36218200-36227000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr11:36218200-36233000	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr11:36218400-36221000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr11:36218400-36221000	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr11:36218400-36222000	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr11:36218400-36224400	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr11:36218400-36224800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr11:36218400-36233000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:36218600-36220000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr11:36218600-36222600	Weak transcription	Brain Cingulate Gyrus	brain
27	chr11:36218600-36227000	Weak transcription	HUVEC	blood vessel
28	chr11:36218600-36232800	Weak transcription	Brain Hippocampus Middle	brain
29	chr11:36218800-36222400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr11:36218800-36230200	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr11:36218800-36230400	Weak transcription	Pancreas	Pancrea
32	chr11:36219000-36220000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr11:36219000-36220000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr11:36219000-36220200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr11:36219000-36220200	Weak transcription	Fetal Heart	heart
36	chr11:36219000-36220400	Genic enhancers	Cortex derived primary cultured neurospheres	brain
37	chr11:36219000-36220400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr11:36219000-36220600	Strong transcription	HSMM	muscle
39	chr11:36219000-36221200	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr11:36219000-36221400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr11:36219000-36222000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr11:36219200-36220600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr11:36219200-36220800	Weak transcription	Stomach Smooth Muscle	stomach
44	chr11:36219200-36221200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr11:36219200-36221200	Weak transcription	NHDF-Ad	bronchial
46	chr11:36219200-36221800	Weak transcription	Brain Germinal Matrix	brain
47	chr11:36219200-36221800	Weak transcription	Fetal Brain Male	brain
48	chr11:36219200-36222200	Weak transcription	Fetal Brain Female	brain
49	chr11:36219200-36227000	Weak transcription	Brain Substantia Nigra	brain
50	chr11:36219200-36232800	Weak transcription	Fetal Lung	lung

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