Variant report

Variant	rs829586
Chromosome Location	chr2:30626447-30626448
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:30618571..30622789-chr2:30622802..30626896,4	K562	blood:

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

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1252614	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1252615	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12988612	0.94[CEU][hapmap];0.88[EUR][1000 genomes]
rs56082933	0.87[EUR][1000 genomes]
rs56185028	0.88[EUR][1000 genomes]
rs6722899	1.00[CHB][hapmap]
rs6741397	0.80[EUR][1000 genomes]
rs7576009	0.81[EUR][1000 genomes]
rs7578449	0.83[CEU][hapmap]
rs7579095	0.82[EUR][1000 genomes]
rs829587	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs829608	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv833648	chr2:30505882-30696275	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	esv3459512	chr2:30615052-30627922	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv3459513	chr2:30615052-30627922	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv11669	chr2:30615374-30627773	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	esv2763638	chr2:30615651-30627654	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv581261	chr2:30623062-30627654	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv581262	chr2:30623062-30633796	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv581265	chr2:30623391-30627654	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30619400-30637200	Enhancers	Fetal Stomach	stomach
2	chr2:30621400-30630400	Weak transcription	Aorta	Aorta
3	chr2:30621800-30626600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr2:30621800-30626600	Weak transcription	Ovary	ovary
5	chr2:30621800-30627000	Weak transcription	NHDF-Ad	bronchial
6	chr2:30622600-30627000	Enhancers	Stomach Smooth Muscle	stomach
7	chr2:30622800-30630400	Enhancers	Colon Smooth Muscle	Colon
8	chr2:30623800-30627000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:30624000-30628000	Enhancers	HSMMtube	muscle
10	chr2:30624400-30629400	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr2:30624800-30633200	Enhancers	Fetal Heart	heart
12	chr2:30625000-30627000	Weak transcription	Right Atrium	heart
13	chr2:30625000-30628600	Enhancers	Fetal Muscle Leg	muscle
14	chr2:30625000-30636200	Enhancers	Rectal Smooth Muscle	rectum
15	chr2:30625200-30627600	Weak transcription	Thymus	Thymus
16	chr2:30625400-30627800	Enhancers	Rectal Mucosa Donor 29	rectum
17	chr2:30625400-30628000	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr2:30625600-30628800	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr2:30626000-30627200	Enhancers	Colonic Mucosa	Colon
20	chr2:30626000-30628200	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr2:30626000-30628400	Enhancers	Fetal Intestine Small	intestine
22	chr2:30626000-30628600	Enhancers	Fetal Lung	lung
23	chr2:30626000-30628800	Enhancers	Fetal Intestine Large	intestine
24	chr2:30626000-30633800	Enhancers	Left Ventricle	heart
25	chr2:30626000-30634000	Enhancers	Right Ventricle	heart
26	chr2:30626000-30638000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr2:30626200-30627000	Enhancers	Duodenum Smooth Muscle	Duodenum
28	chr2:30626200-30628200	Enhancers	Adipose Nuclei	Adipose
29	chr2:30626400-30627400	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr2:30626400-30628800	Enhancers	iPS-15b Cell Line	embryonic stem cell

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