Variant report

Variant	rs61881478
Chromosome Location	chr11:36244966-36244967
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 122 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:120)

rs_ID	r²[population]
rs11033500	1.00[EUR][1000 genomes]
rs11033501	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11033503	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11033504	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11033508	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11551023	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11600365	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11601619	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11602141	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11602754	0.87[AMR][1000 genomes]
rs11603025	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11603810	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11604341	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11604381	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11604397	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11604998	0.84[AMR][1000 genomes]
rs11605921	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11605927	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11605931	1.00[EUR][1000 genomes]
rs11605941	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11606074	0.87[AMR][1000 genomes]
rs11606476	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11606598	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11607231	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12420852	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12421151	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12421199	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12421400	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12574172	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12574173	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12574419	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12574525	0.87[AMR][1000 genomes]
rs12575304	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12575540	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12575617	0.87[AMR][1000 genomes]
rs12575645	0.87[AMR][1000 genomes]
rs12577437	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1405095	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1526058	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1526059	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16928506	0.87[AMR][1000 genomes]
rs16928509	0.87[AMR][1000 genomes]
rs16928510	0.87[AMR][1000 genomes]
rs16928513	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16928514	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16928552	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2289980	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2289981	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34213469	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34892666	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3812769	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3812771	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3812772	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4417242	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4417243	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4468324	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4485080	1.00[EUR][1000 genomes]
rs4611176	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58048041	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58356552	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58648806	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58707777	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59051429	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59137935	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59307065	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs60008257	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60544801	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60759289	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60823142	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61254236	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61879011	0.87[AMR][1000 genomes]
rs61879013	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs61879034	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61879035	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61879036	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61879037	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61879038	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61879039	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61879040	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61879041	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61879261	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61879262	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61879263	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61879264	0.89[EUR][1000 genomes]
rs61879265	0.89[EUR][1000 genomes]
rs61879266	0.89[EUR][1000 genomes]
rs61879267	0.89[EUR][1000 genomes]
rs61879268	0.89[EUR][1000 genomes]
rs61879269	0.89[EUR][1000 genomes]
rs61879270	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61879271	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61879272	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61879273	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61879274	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61879275	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61879277	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61879278	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61879279	0.82[EUR][1000 genomes]
rs61881463	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61881464	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61881465	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61881468	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61881469	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61881470	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61881476	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61881477	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61881481	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61881484	0.89[EUR][1000 genomes]
rs61881485	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61881486	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61881487	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7110064	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72937449	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72937454	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72937494	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72939309	0.83[AMR][1000 genomes]
rs72941791	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs872534	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs921085	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs940923	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36218000-36252200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr11:36219200-36248600	Weak transcription	Ovary	ovary
3	chr11:36221400-36248800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr11:36222800-36248800	Weak transcription	HSMMtube	muscle
5	chr11:36234800-36248800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr11:36234800-36254000	Weak transcription	Right Atrium	heart
7	chr11:36235800-36260400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr11:36236800-36273200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:36237000-36248600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr11:36237000-36248600	Weak transcription	Esophagus	oesophagus
11	chr11:36237800-36248600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr11:36237800-36250600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr11:36238600-36248800	Weak transcription	Fetal Intestine Large	intestine
14	chr11:36239800-36252200	Weak transcription	Hela-S3	cervix
15	chr11:36240400-36253800	Weak transcription	Psoas Muscle	Psoas
16	chr11:36242000-36247000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr11:36242000-36249000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr11:36242000-36249200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr11:36242000-36249800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr11:36242200-36248200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr11:36242200-36248600	Weak transcription	Fetal Muscle Trunk	muscle
22	chr11:36242200-36249000	Weak transcription	HSMM	muscle
23	chr11:36242400-36245200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr11:36242400-36247800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:36242600-36245800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr11:36243800-36254800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr11:36244000-36245200	Enhancers	Fetal Intestine Small	intestine
28	chr11:36244000-36245200	Enhancers	NHEK	skin
29	chr11:36244000-36245400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr11:36244000-36246200	Enhancers	Brain Germinal Matrix	brain
31	chr11:36244000-36246400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr11:36244000-36246400	Enhancers	Fetal Stomach	stomach
33	chr11:36244200-36245000	Enhancers	Colon Smooth Muscle	Colon
34	chr11:36244200-36245000	Enhancers	Duodenum Smooth Muscle	Duodenum
35	chr11:36244200-36245000	Enhancers	Fetal Brain Male	brain
36	chr11:36244200-36245000	Enhancers	Fetal Lung	lung
37	chr11:36244200-36245200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr11:36244200-36245200	Enhancers	Fetal Brain Female	brain
39	chr11:36244200-36245200	Active TSS	Pancreatic Islets	Pancreatic Islet
40	chr11:36244200-36245400	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr11:36244400-36245000	Enhancers	Adipose Nuclei	Adipose
42	chr11:36244400-36245200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr11:36244400-36245200	Flanking Active TSS	Stomach Smooth Muscle	stomach
44	chr11:36244400-36247800	Weak transcription	Fetal Muscle Leg	muscle
45	chr11:36244400-36251800	Weak transcription	Brain Hippocampus Middle	brain
46	chr11:36244600-36245200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr11:36244600-36251800	Weak transcription	Brain Anterior Caudate	brain
48	chr11:36244600-36251800	Weak transcription	Brain Cingulate Gyrus	brain
49	chr11:36244600-36253800	Weak transcription	Brain Angular Gyrus	brain
50	chr11:36244800-36247800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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