Variant report

Variant	rs2270235
Chromosome Location	chr7:21051467-21051468
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10246885	0.82[ASN][1000 genomes]
rs10499519	0.95[ASN][1000 genomes]
rs11975932	0.94[ASN][1000 genomes]
rs11979055	0.94[ASN][1000 genomes]
rs12111744	0.82[ASN][1000 genomes]
rs17143600	0.89[ASN][1000 genomes]
rs17143625	0.95[ASN][1000 genomes]
rs17143639	0.95[ASN][1000 genomes]
rs2390407	0.95[ASN][1000 genomes]
rs3810892	0.95[ASN][1000 genomes]
rs4610629	0.97[ASN][1000 genomes]
rs57938691	0.97[ASN][1000 genomes]
rs59393075	0.95[ASN][1000 genomes]
rs60715596	0.95[ASN][1000 genomes]
rs62441687	0.82[ASN][1000 genomes]
rs6943888	0.95[ASN][1000 genomes]
rs6946702	0.97[ASN][1000 genomes]
rs6947794	0.95[ASN][1000 genomes]
rs6957001	0.82[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	nsv1030726	chr7:20506095-21086719	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv830920	chr7:21014535-21201580	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	esv3478244	chr7:21044211-21417347	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv3478245	chr7:21044211-21417347	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:21049800-21054400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr7:21050000-21054600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr7:21050200-21054600	Enhancers	HMEC	breast
4	chr7:21050200-21054800	Enhancers	NHEK	skin
5	chr7:21051200-21054600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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