Variant report

Variant	rs12043747
Chromosome Location	chr1:221647431-221647432
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10779436	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10863615	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10863617	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10863629	0.86[ASN][1000 genomes]
rs10863632	0.82[ASN][1000 genomes]
rs12561905	0.86[ASN][1000 genomes]
rs12563088	0.82[ASN][1000 genomes]
rs1380253	0.86[ASN][1000 genomes]
rs1459229	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1599083	0.86[ASN][1000 genomes]
rs1599091	0.88[ASN][1000 genomes]
rs1858566	0.84[ASN][1000 genomes]
rs1993631	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2002536	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4846346	0.96[ASN][1000 genomes]
rs4846716	0.86[ASN][1000 genomes]
rs5012024	0.84[ASN][1000 genomes]
rs61817016	0.94[ASN][1000 genomes]
rs6663387	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6688088	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6699330	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6701815	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9659064	0.86[ASN][1000 genomes]
rs9662092	0.82[ASN][1000 genomes]
rs9728318	0.84[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:3 , 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

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Input of quick search could be:

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

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