Variant report

Variant	rs12561905
Chromosome Location	chr1:221650762-221650763
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10779436	0.86[ASN][1000 genomes]
rs10863615	0.86[ASN][1000 genomes]
rs10863617	0.86[ASN][1000 genomes]
rs12043747	0.86[ASN][1000 genomes]
rs12563088	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1459229	0.86[ASN][1000 genomes]
rs1993631	0.86[ASN][1000 genomes]
rs4846346	0.81[ASN][1000 genomes]
rs61817016	0.81[ASN][1000 genomes]
rs6663387	0.86[ASN][1000 genomes]
rs6688088	0.86[ASN][1000 genomes]
rs6699330	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997685	chr1:220993527-221863416	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv535299	chr1:220993527-221863416	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv873200	chr1:221644180-221843191	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221636400-221651200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:221642200-221651200	Weak transcription	HSMM	muscle
3	chr1:221645000-221651000	Weak transcription	Hela-S3	cervix
4	chr1:221650200-221651200	Weak transcription	Fetal Lung	lung
5	chr1:221650200-221651800	Enhancers	Fetal Muscle Leg	muscle
6	chr1:221650600-221652600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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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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