Variant report

Variant	rs6942476
Chromosome Location	chr7:12924473-12924474
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:12918017..12920040-chr7:12923535..12925762,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10235332	0.83[ASN][1000 genomes]
rs10237365	0.83[ASN][1000 genomes]
rs10248233	1.00[ASN][1000 genomes]
rs10262918	1.00[ASN][1000 genomes]
rs10274349	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10274842	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10277517	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10280104	1.00[ASN][1000 genomes]
rs12699421	0.83[ASN][1000 genomes]
rs12699422	0.83[ASN][1000 genomes]
rs13437931	1.00[ASN][1000 genomes]
rs28580150	1.00[ASN][1000 genomes]
rs28865373	1.00[ASN][1000 genomes]
rs34269223	0.83[ASN][1000 genomes]
rs35988890	0.83[ASN][1000 genomes]
rs36003929	0.83[ASN][1000 genomes]
rs36091229	0.83[ASN][1000 genomes]
rs56753879	1.00[ASN][1000 genomes]
rs57594449	1.00[ASN][1000 genomes]
rs6954419	0.83[ASN][1000 genomes]
rs73296201	1.00[ASN][1000 genomes]
rs7806671	1.00[CHB][hapmap]
rs9648162	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024554	chr7:12214722-12967418	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv538735	chr7:12214722-12967418	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription 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	58 gene(s)	inside rSNPs	diseases
3	nsv932020	chr7:12676890-13239551	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv868830	chr7:12712753-13517417	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv1027501	chr7:12743592-12927109	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv606235	chr7:12781381-13205950	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv1020568	chr7:12802640-13183737	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv464382	chr7:12907178-12972685	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv606237	chr7:12907178-12972685	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv464384	chr7:12907178-13077065	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv606238	chr7:12907178-13077065	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	esv2763624	chr7:12917029-12951820	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12922200-12924600	Weak transcription	Aorta	Aorta
2	chr7:12922200-12928600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr7:12922200-12934000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr7:12923200-12925200	Enhancers	HSMM	muscle
5	chr7:12923200-12925200	Enhancers	Osteobl	bone
6	chr7:12923600-12925400	Enhancers	A549	lung
7	chr7:12923800-12924600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr7:12923800-12924600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
9	chr7:12923800-12925200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr7:12924200-12924800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr7:12924200-12925200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr7:12924400-12925000	Enhancers	NHEK	skin
13	chr7:12924400-12925200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr7:12924400-12925200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr7:12924400-12925400	Enhancers	NH-A	brain

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