Variant report

Variant	rs62356691
Chromosome Location	chr5:58389471-58389472
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10065303	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10452450	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10514871	0.82[AFR][1000 genomes]
rs12109774	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs16889167	0.94[EUR][1000 genomes]
rs17720311	0.82[AFR][1000 genomes]
rs17720871	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17721133	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs17721311	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17721564	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17776825	0.82[AFR][1000 genomes]
rs17777280	0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs17777617	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55801062	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56057207	0.82[AFR][1000 genomes]
rs56407743	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62356680	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62356683	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62356684	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62356686	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62356687	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62356690	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62356692	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62356694	0.84[EUR][1000 genomes]
rs6898082	0.82[EUR][1000 genomes]
rs950446	0.85[AMR][1000 genomes];0.81[EUR][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	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	nsv830313	chr5:58273724-58421098	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58376400-58390400	Weak transcription	Hela-S3	cervix
2	chr5:58378200-58391800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr5:58386400-58390200	Weak transcription	Fetal Brain Male	brain
4	chr5:58386400-58391000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr5:58387800-58394600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr5:58388400-58389600	Flanking Active TSS	Rectal Smooth Muscle	rectum
7	chr5:58388600-58389600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr5:58388600-58389600	Enhancers	Fetal Stomach	stomach
9	chr5:58388600-58389600	Enhancers	Small Intestine	intestine
10	chr5:58388600-58389800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr5:58388600-58394600	Weak transcription	Stomach Mucosa	stomach
12	chr5:58388800-58391400	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr5:58389000-58389600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr5:58389000-58389600	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr5:58389000-58389800	Enhancers	Colon Smooth Muscle	Colon
16	chr5:58389000-58390000	Enhancers	Primary T cells from cord blood	blood
17	chr5:58389000-58394600	Weak transcription	HSMM	muscle
18	chr5:58389200-58389600	Enhancers	H1 Cell Line	embryonic stem cell
19	chr5:58389200-58389600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr5:58389200-58389600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr5:58389200-58389600	Flanking Active TSS	Duodenum Mucosa	Duodenum
22	chr5:58389200-58389800	Flanking Active TSS	A549	lung
23	chr5:58389200-58390200	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr5:58389200-58390800	Weak transcription	Fetal Intestine Large	intestine
25	chr5:58389200-58390800	Weak transcription	Fetal Intestine Small	intestine
26	chr5:58389200-58391600	Enhancers	Fetal Lung	lung
27	chr5:58389200-58394600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr5:58389400-58389600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr5:58389400-58389600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr5:58389400-58389600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr5:58389400-58389600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr5:58389400-58389600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr5:58389400-58389600	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr5:58389400-58389600	Enhancers	Placenta	Placenta
35	chr5:58389400-58389600	Enhancers	Stomach Smooth Muscle	stomach
36	chr5:58389400-58389600	Enhancers	Osteobl	bone
37	chr5:58389400-58389800	Enhancers	HepG2	liver
38	chr5:58389400-58389800	Enhancers	NHEK	skin
39	chr5:58389400-58391200	Weak transcription	Fetal Heart	heart
40	chr5:58389400-58392800	Weak transcription	NHLF	lung
41	chr5:58389400-58394200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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