Variant report

Variant	rs12585139
Chromosome Location	chr13:49349270-49349271
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1025236	0.93[ASN][1000 genomes]
rs11148120	0.93[ASN][1000 genomes]
rs11619503	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs12583213	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12583426	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12584796	1.00[JPT][hapmap]
rs12585005	1.00[JPT][hapmap]
rs57124495	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57850097	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73480207	0.93[ASN][1000 genomes]
rs73480217	0.93[ASN][1000 genomes]
rs73480257	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73482295	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs746030	1.00[ASN][1000 genomes]
rs7999498	1.00[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	nsv1049117	chr13:49089476-49928945	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv2758327	chr13:49283983-49472517	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv2759936	chr13:49283983-49472517	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1044086	chr13:49331713-49350131	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	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	chr13:49346400-49350600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr13:49346600-49357200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr13:49346800-49352200	Weak transcription	Left Ventricle	heart
4	chr13:49347400-49352000	Enhancers	Hela-S3	cervix
5	chr13:49347800-49352000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr13:49348400-49350000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr13:49348400-49351400	Weak transcription	Placenta	Placenta
8	chr13:49349000-49349800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr13:49349000-49349800	Enhancers	NHDF-Ad	bronchial
10	chr13:49349200-49349600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr13:49349200-49349600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr13:49349200-49349800	Enhancers	Osteobl	bone
13	chr13:49349200-49351000	Enhancers	NH-A	brain
14	chr13:49349200-49351400	Enhancers	NHLF	lung
15	chr13:49349200-49356800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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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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