Variant report

Variant	rs829588
Chromosome Location	chr2:30623391-30623392
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:30622154..30624895-chr2:30633768..30635407,2	K562	blood:
2	chr2:30617933..30621462-chr2:30622789..30624514,3	K562	blood:
3	chr2:30618571..30622789-chr2:30622802..30626896,4	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10514770	0.86[EUR][1000 genomes]
rs11127273	0.97[EUR][1000 genomes]
rs1252616	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1252617	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1252618	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12993465	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13000021	0.97[EUR][1000 genomes]
rs13012193	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13033921	0.97[EUR][1000 genomes]
rs2030744	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35909231	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4519571	0.96[EUR][1000 genomes]
rs6548012	0.92[EUR][1000 genomes]
rs6548013	0.97[EUR][1000 genomes]
rs7572690	0.96[CEU][hapmap];0.81[JPT][hapmap];0.97[EUR][1000 genomes]
rs7583194	0.80[AFR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7583844	0.93[EUR][1000 genomes]
rs7593766	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs829590	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs829610	0.88[CEU][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs829611	0.89[CEU][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs829612	0.92[CEU][hapmap];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs829613	0.89[CEU][hapmap];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs829614	0.92[CEU][hapmap];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9917125	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	nsv873769	chr2:30585638-30625264	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv3459512	chr2:30615052-30627922	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv3459513	chr2:30615052-30627922	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	esv11669	chr2:30615374-30627773	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	esv2763638	chr2:30615651-30627654	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv581260	chr2:30623062-30626299	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv581261	chr2:30623062-30627654	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv581262	chr2:30623062-30633796	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv581263	chr2:30623123-30626299	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv581264	chr2:30623391-30626299	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
13	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:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30619000-30624800	Weak transcription	Fetal Heart	heart
2	chr2:30619400-30637200	Enhancers	Fetal Stomach	stomach
3	chr2:30619600-30623600	Weak transcription	Right Ventricle	heart
4	chr2:30620600-30624000	Weak transcription	Right Atrium	heart
5	chr2:30620600-30625600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr2:30621400-30630400	Weak transcription	Aorta	Aorta
7	chr2:30621600-30626000	Weak transcription	Fetal Lung	lung
8	chr2:30621800-30626000	Weak transcription	Left Ventricle	heart
9	chr2:30621800-30626600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:30621800-30626600	Weak transcription	Ovary	ovary
11	chr2:30621800-30627000	Weak transcription	NHDF-Ad	bronchial
12	chr2:30622600-30627000	Enhancers	Stomach Smooth Muscle	stomach
13	chr2:30622800-30623400	Enhancers	Placenta Amnion	Placenta Amnion
14	chr2:30622800-30623800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr2:30622800-30624600	Enhancers	Rectal Smooth Muscle	rectum
16	chr2:30622800-30630400	Enhancers	Colon Smooth Muscle	Colon
17	chr2:30623000-30623800	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr2:30623000-30625200	Enhancers	Duodenum Smooth Muscle	Duodenum

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