Variant report

Variant	rs7717303
Chromosome Location	chr5:58541803-58541804
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11954668	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1445948	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1445952	0.81[ASN][1000 genomes]
rs1445954	0.86[ASN][1000 genomes]
rs1471429	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1471430	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16889479	0.86[ASN][1000 genomes]
rs16889499	0.86[ASN][1000 genomes]
rs16889518	0.81[ASN][1000 genomes]
rs17528522	0.81[ASN][1000 genomes]
rs17528578	0.81[ASN][1000 genomes]
rs1823070	0.86[ASN][1000 genomes]
rs1824157	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1838733	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1867711	0.86[ASN][1000 genomes]
rs1867712	0.86[ASN][1000 genomes]
rs1947090	0.81[ASN][1000 genomes]
rs2409631	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28862729	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4700327	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4700328	0.81[ASN][1000 genomes]
rs67196739	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs67526430	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6858946	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6877508	0.81[ASN][1000 genomes]
rs6888028	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6897568	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs765182	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][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:35 , 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	chr5:58537200-58542600	Weak transcription	Fetal Kidney	kidney
4	chr5:58537400-58542200	Weak transcription	Brain Cingulate Gyrus	brain
5	chr5:58537400-58543600	Weak transcription	Left Ventricle	heart
6	chr5:58537600-58548600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr5:58537600-58553000	Weak transcription	Duodenum Mucosa	Duodenum
8	chr5:58537800-58542600	Weak transcription	Hela-S3	cervix
9	chr5:58539000-58543000	Weak transcription	Small Intestine	intestine
10	chr5:58540600-58542200	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr5:58540800-58542000	Enhancers	Stomach Smooth Muscle	stomach
12	chr5:58540800-58542200	Enhancers	Fetal Stomach	stomach
13	chr5:58540800-58542800	Enhancers	Brain Angular Gyrus	brain
14	chr5:58540800-58543000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr5:58540800-58543200	Enhancers	Colon Smooth Muscle	Colon
16	chr5:58540800-58543800	Enhancers	Fetal Lung	lung
17	chr5:58541000-58543000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr5:58541000-58543400	Enhancers	Osteobl	bone
19	chr5:58541000-58545400	Enhancers	Rectal Smooth Muscle	rectum
20	chr5:58541200-58543200	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr5:58541200-58558400	Weak transcription	Pancreas	Pancrea
22	chr5:58541400-58542000	Enhancers	A549	lung
23	chr5:58541400-58543200	Enhancers	Muscle Satellite Cultured Cells	--
24	chr5:58541600-58542200	Weak transcription	Fetal Heart	heart
25	chr5:58541600-58542800	Weak transcription	Brain Substantia Nigra	brain
26	chr5:58541600-58560000	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr5:58541600-58562400	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr5:58541800-58542800	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr5:58541800-58542800	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr5:58541800-58543200	Weak transcription	Fetal Intestine Large	intestine
31	chr5:58541800-58543400	Weak transcription	Fetal Intestine Small	intestine
32	chr5:58541800-58543400	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr5:58541800-58543600	Weak transcription	Psoas Muscle	Psoas
34	chr5:58541800-58543600	Weak transcription	Right Atrium	heart
35	chr5:58541800-58562800	Weak transcription	Sigmoid Colon	Sigmoid Colon

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