Variant report

Variant	rs6462968
Chromosome Location	chr7:40305112-40305113
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10234315	1.00[CHD][hapmap];0.82[JPT][hapmap];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10247300	0.84[LWK][hapmap]
rs10248078	0.85[AFR][1000 genomes]
rs10252609	0.83[AFR][1000 genomes]
rs10261911	0.85[AFR][1000 genomes]
rs12668394	0.83[AFR][1000 genomes]
rs12701807	0.87[YRI][hapmap];0.85[AFR][1000 genomes]
rs12701810	0.84[LWK][hapmap]
rs13244588	0.85[AFR][1000 genomes]
rs13247974	0.85[AFR][1000 genomes]
rs28414155	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4129802	0.84[LWK][hapmap]
rs4296945	0.97[GIH][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap];0.86[EUR][1000 genomes]
rs4585651	0.85[AFR][1000 genomes]
rs4637704	0.84[LWK][hapmap]
rs4723939	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6952552	1.00[JPT][hapmap];0.87[TSI][hapmap];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6963317	0.88[AFR][1000 genomes]
rs73133536	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7800560	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7802356	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032278	chr7:40097371-40396300	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv464438	chr7:40193535-40350887	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv606710	chr7:40193535-40350887	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1030648	chr7:40218618-41032599	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv606711	chr7:40225129-40360257	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv887985	chr7:40265510-40586674	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1033564	chr7:40273845-40417886	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv817404	chr7:40295934-40573605	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:40303600-40305600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr7:40304000-40307200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr7:40304200-40307600	Weak transcription	Fetal Heart	heart
4	chr7:40304400-40307800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr7:40304400-40323600	Weak transcription	HepG2	liver
6	chr7:40304600-40307200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr7:40304800-40305400	Weak transcription	Dnd41	blood
8	chr7:40304800-40305600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr7:40304800-40309000	Weak transcription	Primary hematopoietic stem cells	blood
10	chr7:40305000-40305600	Enhancers	Muscle Satellite Cultured Cells	--

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