Variant report

Variant	rs6869400
Chromosome Location	chr5:58391013-58391014
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10065699	0.86[JPT][hapmap]
rs11957770	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12108729	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs13360359	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16889175	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3805555	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs56658018	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58202935	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58830206	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60527700	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60741550	0.81[ASN][1000 genomes]
rs60790143	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60836618	0.81[ASN][1000 genomes]
rs60900708	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61288498	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73093337	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73093348	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73093351	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs950446	0.86[JPT][hapmap]

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:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58378200-58391800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:58387800-58394600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr5:58388600-58394600	Weak transcription	Stomach Mucosa	stomach
4	chr5:58388800-58391400	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr5:58389000-58394600	Weak transcription	HSMM	muscle
6	chr5:58389200-58391600	Enhancers	Fetal Lung	lung
7	chr5:58389200-58394600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr5:58389400-58391200	Weak transcription	Fetal Heart	heart
9	chr5:58389400-58392800	Weak transcription	NHLF	lung
10	chr5:58389400-58394200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr5:58389600-58391200	Weak transcription	Duodenum Mucosa	Duodenum
12	chr5:58389600-58391400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr5:58389600-58391400	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr5:58389600-58391600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr5:58389600-58391600	Weak transcription	Stomach Smooth Muscle	stomach
16	chr5:58389600-58391800	Weak transcription	Small Intestine	intestine
17	chr5:58389600-58392000	Weak transcription	Fetal Stomach	stomach
18	chr5:58389600-58393000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr5:58389600-58394000	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr5:58389600-58394200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr5:58389600-58394600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr5:58389800-58394000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr5:58389800-58394200	Weak transcription	NHEK	skin
24	chr5:58389800-58394800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr5:58389800-58395000	Weak transcription	HepG2	liver
26	chr5:58390200-58392000	Enhancers	Fetal Brain Male	brain
27	chr5:58390400-58391200	Enhancers	Colon Smooth Muscle	Colon
28	chr5:58390600-58391400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr5:58390600-58391600	Enhancers	Muscle Satellite Cultured Cells	--
30	chr5:58390600-58391800	Enhancers	Osteobl	bone
31	chr5:58390800-58392000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr5:58390800-58392000	Flanking Active TSS	A549	lung
33	chr5:58390800-58392200	Enhancers	Rectal Smooth Muscle	rectum
34	chr5:58390800-58396200	Enhancers	Fetal Intestine Large	intestine
35	chr5:58391000-58391400	Enhancers	Pancreatic Islets	Pancreatic Islet
36	chr5:58391000-58391600	Weak transcription	Hela-S3	cervix
37	chr5:58391000-58391800	Weak transcription	Fetal Intestine Small	intestine
38	chr5:58391000-58395000	Weak transcription	Primary T cells from cord blood	blood

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