Variant report

Variant	rs17720357
Chromosome Location	chr5:147848994-147848995
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10058828	0.91[ASN][1000 genomes]
rs10062444	0.95[ASN][1000 genomes]
rs10515608	0.91[CHB][hapmap];1.00[EUR][1000 genomes]
rs10515611	0.92[CHB][hapmap];1.00[EUR][1000 genomes]
rs11948260	1.00[EUR][1000 genomes]
rs11953091	1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs11957083	0.92[CHB][hapmap];1.00[EUR][1000 genomes]
rs11959374	0.92[CHB][hapmap];1.00[EUR][1000 genomes]
rs1345740	0.92[CHB][hapmap];1.00[EUR][1000 genomes]
rs1363706	1.00[EUR][1000 genomes]
rs1422971	1.00[EUR][1000 genomes]
rs1422972	1.00[EUR][1000 genomes]
rs17108199	1.00[EUR][1000 genomes]
rs17108205	0.92[CHB][hapmap];1.00[EUR][1000 genomes]
rs17108209	1.00[EUR][1000 genomes]
rs17719549	1.00[EUR][1000 genomes]
rs17719614	0.92[CHB][hapmap];1.00[EUR][1000 genomes]
rs17719733	0.92[CHB][hapmap];1.00[EUR][1000 genomes]
rs17719769	0.92[CHB][hapmap];1.00[EUR][1000 genomes]
rs17719787	0.92[CHB][hapmap];1.00[EUR][1000 genomes]
rs17719822	1.00[EUR][1000 genomes]
rs17719932	1.00[EUR][1000 genomes]
rs17720060	0.92[CHB][hapmap];1.00[EUR][1000 genomes]
rs17720226	0.92[CHB][hapmap];1.00[EUR][1000 genomes]
rs17720407	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17776270	1.00[EUR][1000 genomes]
rs17776324	0.92[CHB][hapmap];1.00[EUR][1000 genomes]
rs17776590	1.00[EUR][1000 genomes]
rs17776792	0.92[CHB][hapmap];1.00[EUR][1000 genomes]
rs17776900	0.90[CHB][hapmap];1.00[EUR][1000 genomes]
rs17776978	0.92[CHB][hapmap];1.00[EUR][1000 genomes]
rs2303057	1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs41531052	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58943147	1.00[EUR][1000 genomes]
rs60540892	1.00[EUR][1000 genomes]
rs61508663	1.00[EUR][1000 genomes]
rs61555444	1.00[EUR][1000 genomes]
rs61601119	1.00[EUR][1000 genomes]
rs6863921	1.00[EUR][1000 genomes]
rs6873482	1.00[EUR][1000 genomes]
rs6873778	1.00[EUR][1000 genomes]
rs6888281	1.00[EUR][1000 genomes]
rs6890544	0.92[CHB][hapmap];1.00[EUR][1000 genomes]
rs6897195	1.00[EUR][1000 genomes]
rs73264531	1.00[EUR][1000 genomes]
rs7719881	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830516	chr5:147801104-147966093	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:147845400-147849200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr5:147845400-147853800	Weak transcription	Aorta	Aorta
3	chr5:147845800-147849000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr5:147845800-147849000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr5:147846000-147849000	Weak transcription	Fetal Lung	lung
6	chr5:147847400-147849600	Enhancers	Right Atrium	heart
7	chr5:147847800-147849000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr5:147848000-147849000	Enhancers	Brain Cingulate Gyrus	brain
9	chr5:147848000-147849400	Enhancers	Brain Germinal Matrix	brain
10	chr5:147848000-147849800	Enhancers	Brain Substantia Nigra	brain
11	chr5:147848200-147849200	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr5:147848200-147849400	Enhancers	Colon Smooth Muscle	Colon
13	chr5:147848800-147849000	Enhancers	Brain Anterior Caudate	brain
14	chr5:147848800-147849200	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr5:147848800-147849200	Flanking Active TSS	HUVEC	blood vessel
16	chr5:147848800-147849400	Flanking Active TSS	Brain Hippocampus Middle	brain
17	chr5:147848800-147849400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
18	chr5:147848800-147849600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr5:147848800-147849600	Enhancers	Brain Angular Gyrus	brain
20	chr5:147848800-147849600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr5:147848800-147849600	Enhancers	Left Ventricle	heart
22	chr5:147848800-147849600	Enhancers	NHLF	lung
23	chr5:147848800-147849600	Enhancers	Osteobl	bone
24	chr5:147848800-147849800	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr5:147848800-147850000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr5:147848800-147850000	Enhancers	Muscle Satellite Cultured Cells	--
27	chr5:147848800-147852400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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