Variant report

Variant	rs62356729
Chromosome Location	chr5:58447823-58447824
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10059053	0.85[ASN][1000 genomes]
rs10461658	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62356725	0.89[ASN][1000 genomes]
rs62356727	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62356730	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62356731	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62357962	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62357963	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62357965	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62357966	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62357967	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62357968	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62357969	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62357971	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62357972	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs62357973	0.92[ASN][1000 genomes]
rs6863716	0.92[ASN][1000 genomes]
rs6877256	0.96[EUR][1000 genomes];0.92[ASN][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	nsv881702	chr5:58432413-58474854	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58427200-58454000	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr5:58433000-58451600	Weak transcription	Fetal Muscle Leg	muscle
3	chr5:58437400-58454000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr5:58439000-58484000	Weak transcription	Fetal Kidney	kidney
5	chr5:58440200-58448600	Weak transcription	Brain Anterior Caudate	brain
6	chr5:58442400-58448600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr5:58444000-58449800	Genic enhancers	A549	lung
8	chr5:58444800-58448000	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr5:58444800-58448400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr5:58445800-58448000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr5:58446000-58448000	Enhancers	Fetal Intestine Small	intestine
12	chr5:58446000-58448600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr5:58446200-58448400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr5:58446200-58449000	Enhancers	Fetal Intestine Large	intestine
15	chr5:58446800-58449200	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr5:58447000-58449400	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr5:58447000-58450000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr5:58447000-58453400	Enhancers	Primary T cells from cord blood	blood
19	chr5:58447200-58450000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr5:58447400-58448000	Enhancers	Fetal Thymus	thymus
21	chr5:58447400-58448400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr5:58447400-58449200	Enhancers	Colon Smooth Muscle	Colon
23	chr5:58447400-58449800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr5:58447400-58451200	Weak transcription	Hela-S3	cervix
25	chr5:58447600-58448600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr5:58447600-58448600	Weak transcription	Psoas Muscle	Psoas
27	chr5:58447600-58448800	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr5:58447600-58448800	Weak transcription	Small Intestine	intestine
29	chr5:58447600-58449600	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr5:58447600-58454800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr5:58447600-58464000	Weak transcription	Right Ventricle	heart
32	chr5:58447600-58465200	Weak transcription	Right Atrium	heart
33	chr5:58447600-58473200	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr5:58447600-58473400	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr5:58447600-58479600	Weak transcription	Left Ventricle	heart
36	chr5:58447800-58448600	Weak transcription	HepG2	liver
37	chr5:58447800-58449000	Enhancers	Thymus	Thymus
38	chr5:58447800-58453000	Weak transcription	Fetal Heart	heart

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