Variant report

Variant	rs4313552
Chromosome Location	chr11:101734618-101734619
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10458947	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10459003	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10466637	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10750619	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10791521	0.83[EUR][1000 genomes]
rs10791522	0.83[EUR][1000 genomes]
rs10791525	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10791526	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10791536	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10791537	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10791538	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10791541	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10791542	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10895196	0.83[EUR][1000 genomes]
rs10895197	0.83[EUR][1000 genomes]
rs10895198	0.83[EUR][1000 genomes]
rs10895199	0.80[ASN][1000 genomes]
rs10895200	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10895214	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10895215	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10895216	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11225006	0.84[AFR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11225009	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11599998	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1939025	0.83[EUR][1000 genomes]
rs1939039	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1939057	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1939059	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1939066	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1939071	0.82[EUR][1000 genomes]
rs1939073	0.83[EUR][1000 genomes]
rs1939437	0.83[EUR][1000 genomes]
rs2099834	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2155057	0.82[EUR][1000 genomes]
rs2155058	0.82[EUR][1000 genomes]
rs2155061	0.83[EUR][1000 genomes]
rs2155063	0.83[EUR][1000 genomes]
rs2186610	0.82[EUR][1000 genomes]
rs2197105	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6590918	0.83[EUR][1000 genomes]
rs7104516	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7131271	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs732086	0.83[EUR][1000 genomes]
rs732257	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7924364	0.83[EUR][1000 genomes]
rs7936478	0.84[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs9988826	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052159	chr11:101439655-101853293	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1051457	chr11:101446705-101837650	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv530645	chr11:101451416-101778666	Bivalent/Poised TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv832249	chr11:101571819-101749073	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv832250	chr11:101617934-101804020	Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv430425	chr11:101626575-101741691	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:101731400-101735200	Enhancers	HepG2	liver
2	chr11:101731800-101734800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr11:101731800-101736000	Enhancers	HUVEC	blood vessel
4	chr11:101731800-101738800	Enhancers	NHDF-Ad	bronchial
5	chr11:101732000-101735200	Enhancers	A549	lung
6	chr11:101732000-101735400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr11:101733000-101734800	Enhancers	Muscle Satellite Cultured Cells	--
8	chr11:101733400-101735000	Weak transcription	Liver	Liver
9	chr11:101733400-101735000	Enhancers	HMEC	breast
10	chr11:101733600-101735400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr11:101734000-101735000	Weak transcription	Hela-S3	cervix
12	chr11:101734000-101735600	Enhancers	NH-A	brain
13	chr11:101734000-101735800	Enhancers	Fetal Intestine Small	intestine
14	chr11:101734000-101737400	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr11:101734000-101738600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr11:101734200-101735000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr11:101734200-101735200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr11:101734200-101735200	Enhancers	Osteobl	bone
19	chr11:101734200-101736400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr11:101734200-101736800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr11:101734400-101734800	Weak transcription	Fetal Intestine Large	intestine
22	chr11:101734400-101737400	Weak transcription	NHEK	skin
23	chr11:101734600-101735000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr11:101734600-101735200	Enhancers	Duodenum Mucosa	Duodenum
25	chr11:101734600-101737400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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