Variant report

Variant	rs12706125
Chromosome Location	chr7:116581344-116581345
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:116578903..116581740-chr7:116586213..116588170,2	K562	blood:
2	7:115847372-115857098..7:116580605-116585719	K562	blood:
3	7:115890993-115892266..7:116580605-116585719	H1-hESC	embryonic stem cell:	embryo
4	7:116580605-116585719..7:117100350-117112126	H1-hESC	embryonic stem cell:	embryo
5	7:116580605-116585719..7:116754962-116765597	GM12878	blood:
6	7:115861595-115870968..7:116580605-116585719	Hela-S3	cervix:
7	7:116434729-116454408..7:116580605-116585719	Hela-S3	cervix:
8	chr7:116579588..116584018-chr7:116585740..116594123,10	K562	blood:
9	7:116580605-116585719..7:116728195-116740907	GM12878	blood:

No data

Variant related genes	Relation type
ENSG00000135269	Chromatin interaction
ENSG00000198898	Chromatin interaction
ENSG00000001626	Chromatin interaction
ENSG00000226367	Chromatin interaction
ENSG00000214188	Chromatin interaction
ENSG00000004866	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11762032	0.86[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11764134	0.93[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11765198	0.92[CEU][hapmap];0.93[EUR][1000 genomes]
rs11773591	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs12706124	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12706126	0.86[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12706127	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12706134	0.91[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12706135	0.93[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12706136	0.83[EUR][1000 genomes]
rs12706137	0.86[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12706138	0.86[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap]
rs12706139	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs12706140	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs12706141	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs12706143	1.00[CHB][hapmap]
rs12706144	1.00[CHB][hapmap]
rs13222576	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs13224314	1.00[CHB][hapmap]
rs13235739	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13239447	0.86[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13243111	0.83[EUR][1000 genomes]
rs13308921	1.00[CHB][hapmap]
rs2188693	1.00[CHB][hapmap]
rs34042687	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3808218	1.00[CHB][hapmap]
rs3808222	1.00[CHB][hapmap]
rs66758829	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs71544773	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[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	nsv831107	chr7:116414734-116649466	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv889074	chr7:116552859-116604194	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv889075	chr7:116552859-116610237	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv889073	chr7:116552859-116611113	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:116570800-116592800	Weak transcription	Right Atrium	heart
2	chr7:116571000-116589000	Weak transcription	Fetal Lung	lung
3	chr7:116580600-116581400	Enhancers	HepG2	liver
4	chr7:116581000-116581400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr7:116581000-116581400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr7:116581000-116581400	Enhancers	Fetal Heart	heart
7	chr7:116581200-116582600	Weak transcription	K562	blood

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