Variant report

Variant	rs2052784
Chromosome Location	chr8:125942713-125942714
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125938622..125941222-chr8:125941818..125944326,4	K562	blood:
2	chr8:125941852..125943779-chr8:125947452..125949453,4	K562	blood:
3	chr8:125940963..125943523-chr8:125950318..125952759,2	K562	blood:
4	chr8:125941852..125943693-chr8:125947512..125949453,2	K562	blood:
5	chr8:125941899..125943722-chr8:125948605..125950598,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000249816	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10956223	0.82[ASN][1000 genomes]
rs10956224	0.91[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs11776042	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11781649	0.96[ASN][1000 genomes]
rs11781785	0.97[ASN][1000 genomes]
rs11781812	0.86[ASN][1000 genomes]
rs11782252	0.95[ASN][1000 genomes]
rs11782787	0.87[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs11782922	0.87[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs11782982	0.87[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs11785339	1.00[ASN][1000 genomes]
rs12542299	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1427083	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1427088	0.91[CHB][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs1427090	0.91[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs16900085	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs16900093	0.86[ASN][1000 genomes]
rs17395997	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1820534	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs2052781	0.99[ASN][1000 genomes]
rs2052782	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2052783	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2052785	0.99[ASN][1000 genomes]
rs2052786	1.00[ASN][1000 genomes]
rs4409411	0.86[ASN][1000 genomes]
rs4567058	0.96[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs58514883	0.99[ASN][1000 genomes]
rs61411054	0.85[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	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1030803	chr8:125868684-125969635	Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
3	nsv1024405	chr8:125868684-125971035	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	nsv1020502	chr8:125868684-125972572	Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125937600-125951600	Weak transcription	Right Atrium	heart
2	chr8:125941200-125943600	Enhancers	K562	blood
3	chr8:125942200-125942800	Enhancers	Primary B cells from peripheral blood	blood
4	chr8:125942600-125943000	Enhancers	Primary B cells from cord blood	blood
5	chr8:125942600-125944400	Enhancers	HepG2	liver

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