Variant report

Variant	rs11747413
Chromosome Location	chr5:58541199-58541200
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10036406	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs10038599	0.85[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs10055446	0.90[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10059709	0.88[CHB][hapmap];0.81[JPT][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10061600	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10061786	0.84[CEU][hapmap];1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs10064893	0.91[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10068836	0.91[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10070294	0.84[CEU][hapmap];1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs10070436	0.91[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[ASN][1000 genomes]
rs10075364	0.87[ASN][1000 genomes]
rs10440630	0.89[CHB][hapmap]
rs11740402	0.91[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13328160	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs13328226	1.00[CHB][hapmap]
rs13354210	0.83[CEU][hapmap]
rs13360907	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17444059	0.84[CEU][hapmap];1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs17528257	1.00[CEU][hapmap];1.00[CHB][hapmap];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17528285	0.91[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17528473	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs17780213	0.83[AMR][1000 genomes]
rs17780740	0.82[CEU][hapmap]
rs2044419	0.83[AMR][1000 genomes]
rs2112959	1.00[CHB][hapmap]
rs28529077	0.87[ASN][1000 genomes]
rs28647633	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60453299	0.89[ASN][1000 genomes]
rs6881054	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs72765932	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72765942	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72765953	0.87[ASN][1000 genomes]
rs72765961	0.87[ASN][1000 genomes]
rs72767710	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2830363	chr5:57893949-58555491	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv598252	chr5:58487764-58618889	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv1025807	chr5:58520050-58548231	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv520721	chr5:58520735-58558388	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58527400-58549800	Weak transcription	Aorta	Aorta
2	chr5:58535600-58551800	Weak transcription	HUVEC	blood vessel
3	chr5:58537200-58541400	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr5:58537200-58542600	Weak transcription	Fetal Kidney	kidney
5	chr5:58537400-58542200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr5:58537400-58543600	Weak transcription	Left Ventricle	heart
7	chr5:58537600-58548600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr5:58537600-58553000	Weak transcription	Duodenum Mucosa	Duodenum
9	chr5:58537800-58542600	Weak transcription	Hela-S3	cervix
10	chr5:58539000-58543000	Weak transcription	Small Intestine	intestine
11	chr5:58540600-58542200	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr5:58540800-58541200	Enhancers	Brain Anterior Caudate	brain
13	chr5:58540800-58541200	Enhancers	Esophagus	oesophagus
14	chr5:58540800-58541200	Enhancers	Fetal Muscle Leg	muscle
15	chr5:58540800-58541200	Enhancers	Pancreas	Pancrea
16	chr5:58540800-58541200	Enhancers	HSMMtube	muscle
17	chr5:58540800-58541400	Enhancers	Adipose Nuclei	Adipose
18	chr5:58540800-58541400	Flanking Active TSS	A549	lung
19	chr5:58540800-58541600	Enhancers	Duodenum Smooth Muscle	Duodenum
20	chr5:58540800-58541600	Enhancers	Ovary	ovary
21	chr5:58540800-58541600	Enhancers	Rectal Mucosa Donor 29	rectum
22	chr5:58540800-58541800	Enhancers	Brain Hippocampus Middle	brain
23	chr5:58540800-58541800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr5:58540800-58541800	Enhancers	Fetal Intestine Small	intestine
25	chr5:58540800-58541800	Enhancers	Right Atrium	heart
26	chr5:58540800-58541800	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr5:58540800-58541800	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr5:58540800-58541800	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr5:58540800-58542000	Enhancers	Stomach Smooth Muscle	stomach
30	chr5:58540800-58542200	Enhancers	Fetal Stomach	stomach
31	chr5:58540800-58542800	Enhancers	Brain Angular Gyrus	brain
32	chr5:58540800-58543000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr5:58540800-58543200	Enhancers	Colon Smooth Muscle	Colon
34	chr5:58540800-58543800	Enhancers	Fetal Lung	lung
35	chr5:58541000-58541200	Enhancers	Fetal Intestine Large	intestine
36	chr5:58541000-58541200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr5:58541000-58541200	Enhancers	Right Ventricle	heart
38	chr5:58541000-58541400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr5:58541000-58541600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr5:58541000-58541600	Enhancers	Brain Substantia Nigra	brain
41	chr5:58541000-58541600	Enhancers	Fetal Heart	heart
42	chr5:58541000-58541800	Enhancers	Psoas Muscle	Psoas
43	chr5:58541000-58541800	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr5:58541000-58543000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr5:58541000-58543400	Enhancers	Osteobl	bone
46	chr5:58541000-58545400	Enhancers	Rectal Smooth Muscle	rectum

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