Variant report

Variant	rs2222539
Chromosome Location	chr7:102674786-102674787
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:102673845..102676724-chr7:102700499..102703034,2	K562	blood:
2	chr7:102670106..102673764-chr7:102674096..102679357,5	K562	blood:
3	chr7:102674721..102677676-chr7:102695707..102697752,2	K562	blood:
4	chr7:102670106..102671989-chr7:102673775..102676730,2	K562	blood:

Variant related genes	Relation type
ENSG00000236226	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10808120	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10953380	0.82[ASN][1000 genomes]
rs10953382	0.80[ASN][1000 genomes]
rs11514917	0.82[ASN][1000 genomes]
rs11768949	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11770319	0.84[ASN][1000 genomes]
rs11972261	0.90[ASN][1000 genomes]
rs11976237	0.92[ASN][1000 genomes]
rs12666317	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13221585	1.00[ASN][1000 genomes]
rs13221979	0.82[ASN][1000 genomes]
rs13222980	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13229214	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13232194	0.83[ASN][1000 genomes]
rs1608651	0.88[ASN][1000 genomes]
rs1829957	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2298854	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4609128	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4729860	0.88[ASN][1000 genomes]
rs4729864	0.80[ASN][1000 genomes]
rs4729866	0.98[ASN][1000 genomes]
rs4729873	0.90[ASN][1000 genomes]
rs6978630	0.88[ASN][1000 genomes]
rs7458786	0.96[ASN][1000 genomes]
rs7780405	0.96[ASN][1000 genomes]
rs7789252	0.88[ASN][1000 genomes]
rs7807055	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs869332	0.88[ASN][1000 genomes]
rs952879	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs955992	0.86[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	nsv1016563	chr7:101912320-102695860	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1028438	chr7:101912320-102704135	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	nsv868996	chr7:102332827-102991361	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	esv2752138	chr7:102358320-102787135	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102672000-102678400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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