Variant report

Variant	rs581530
Chromosome Location	chr3:138825892-138825893
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:138823926..138825824-chr3:138825892..138828740,2	K562	blood:
2	chr3:138824936..138826691-chr3:138828053..138831743,3	MCF-7	breast:
3	chr3:138811607..138813386-chr3:138823037..138825929,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175110	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10513056	1.00[CEU][hapmap]
rs1081429	0.85[ASN][1000 genomes]
rs1092455	0.87[ASN][1000 genomes]
rs10935296	0.82[CHB][hapmap]
rs10935298	0.89[ASN][1000 genomes]
rs10935299	0.87[JPT][hapmap]
rs12493424	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs12632179	1.00[CEU][hapmap];0.83[TSI][hapmap];0.90[EUR][1000 genomes]
rs12636735	0.90[EUR][1000 genomes]
rs1533134	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs17559081	1.00[CEU][hapmap];0.83[TSI][hapmap]
rs1849107	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2202665	0.94[CHB][hapmap];0.88[JPT][hapmap];0.94[ASN][1000 genomes]
rs57741262	0.87[EUR][1000 genomes]
rs584059	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs586043	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59158249	0.90[EUR][1000 genomes]
rs59753488	0.90[EUR][1000 genomes]
rs59774400	0.90[EUR][1000 genomes]
rs599157	1.00[CEU][hapmap]
rs599415	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60709982	0.90[EUR][1000 genomes]
rs60944880	0.87[EUR][1000 genomes]
rs61151687	0.99[ASN][1000 genomes]
rs61484319	0.90[EUR][1000 genomes]
rs629414	0.88[CHB][hapmap]
rs633876	1.00[CEU][hapmap];0.82[CHB][hapmap];0.87[MEX][hapmap];0.89[TSI][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs647078	0.87[ASN][1000 genomes]
rs647093	0.87[ASN][1000 genomes]
rs649829	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs663729	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.94[TSI][hapmap];0.87[ASN][1000 genomes]
rs676102	1.00[CEU][hapmap];0.89[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.94[TSI][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6804898	0.91[EUR][1000 genomes]
rs68129305	0.88[ASN][1000 genomes]
rs72630200	1.00[ASN][1000 genomes]
rs72978912	0.90[EUR][1000 genomes]
rs7636403	0.91[EUR][1000 genomes]
rs770978	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002612	chr3:138213274-138831792	Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv536726	chr3:138213274-138831792	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv868955	chr3:138248190-138848947	Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv829736	chr3:138737352-138934758	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:138820600-138839000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:138823200-138826400	Enhancers	Pancreas	Pancrea
3	chr3:138823800-138826200	Enhancers	Fetal Intestine Large	intestine
4	chr3:138824000-138826400	Enhancers	Duodenum Mucosa	Duodenum
5	chr3:138824000-138827000	Enhancers	Liver	Liver
6	chr3:138825400-138826000	Bivalent Enhancer	Stomach Mucosa	stomach

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