Variant report

Variant	rs6947780
Chromosome Location	chr7:39936019-39936020
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:39935762..39936421-chr7:40091763..40092363,2	K562	blood:
2	chr7:39934240..39937212-chr7:39987156..39990695,5	MCF-7	breast:
3	chr7:39932180..39934119-chr7:39934393..39936758,2	MCF-7	breast:
4	chr7:39662538..39665289-chr7:39934013..39936040,2	K562	blood:
5	chr7:39934810..39937643-chr7:39987808..39990500,2	K562	blood:
6	chr7:39925804..39928770-chr7:39934507..39936424,2	K562	blood:
7	chr7:39934010..39936310-chr7:39987808..39989967,2	K562	blood:

Variant related genes	Relation type
ENSG00000259826	Chromatin interaction
ENSG00000242855	Chromatin interaction
ENSG00000065883	Chromatin interaction
ENSG00000006451	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10225311	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10270355	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11760665	0.95[EUR][1000 genomes]
rs11973720	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11975808	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11983868	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12701774	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12701776	0.97[EUR][1000 genomes]
rs12701777	0.95[EUR][1000 genomes]
rs12701778	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1523711	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1608500	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2049350	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2049351	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs2091092	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2329608	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2329609	0.99[ASN][1000 genomes]
rs2329610	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3966561	0.92[ASN][1000 genomes]
rs4720343	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4723914	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4723915	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6462952	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6462953	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6949575	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6957432	0.99[ASN][1000 genomes]
rs6969026	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6979770	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72589780	0.99[ASN][1000 genomes]
rs72589783	0.92[ASN][1000 genomes]
rs7777774	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7787480	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7789497	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.91[TSI][hapmap];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9638946	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427777	chr7:39726513-39936904	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv887973	chr7:39772654-40110720	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
3	nsv887974	chr7:39827400-39956829	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv887975	chr7:39858378-40124137	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
5	nsv887976	chr7:39874986-40018693	Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
6	nsv887977	chr7:39885541-40018693	ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 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	chr7:39936000-39936200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr7:39936000-39936200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
3	chr7:39936000-39936400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
4	chr7:39936000-39936400	Enhancers	Primary T helper cells PMA-I stimulated	--
5	chr7:39936000-39936400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr7:39936000-39936400	Enhancers	Brain Hippocampus Middle	brain
7	chr7:39936000-39936800	Enhancers	Adipose Nuclei	Adipose

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