Variant report

Variant	rs73930744
Chromosome Location	chr19:40054474-40054475
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10409266	1.00[AMR][1000 genomes]
rs10410433	1.00[AMR][1000 genomes]
rs10415824	1.00[AMR][1000 genomes]
rs10416483	1.00[AMR][1000 genomes]
rs10416833	1.00[AMR][1000 genomes]
rs10418621	1.00[AMR][1000 genomes]
rs11878949	1.00[AMR][1000 genomes]
rs11881743	1.00[AMR][1000 genomes]
rs11881791	1.00[AMR][1000 genomes]
rs11882363	1.00[AMR][1000 genomes]
rs13345090	1.00[AMR][1000 genomes]
rs28673032	1.00[AMR][1000 genomes]
rs35805511	1.00[AMR][1000 genomes]
rs35904695	1.00[AMR][1000 genomes]
rs55715307	1.00[AMR][1000 genomes]
rs56110409	1.00[AMR][1000 genomes]
rs57795340	1.00[AMR][1000 genomes]
rs59673015	1.00[AMR][1000 genomes]
rs60760924	1.00[AMR][1000 genomes]
rs61201100	1.00[AMR][1000 genomes]
rs73930737	1.00[AMR][1000 genomes]
rs73930738	1.00[AMR][1000 genomes]
rs73930740	1.00[AMR][1000 genomes]
rs73930742	1.00[AMR][1000 genomes]
rs73930743	1.00[AMR][1000 genomes]
rs73930746	1.00[AMR][1000 genomes]
rs73930752	1.00[AMR][1000 genomes]
rs73930764	1.00[AMR][1000 genomes]
rs73930765	1.00[AMR][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	nsv1060251	chr19:39982988-40099773	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv579509	chr19:40004640-40133438	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	esv34120	chr19:40044635-40131820	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40050400-40055400	Weak transcription	GM12878-XiMat	blood
2	chr19:40053600-40054600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr19:40053800-40054600	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr19:40054000-40054600	Enhancers	HMEC	breast
5	chr19:40054000-40054600	Enhancers	NH-A	brain
6	chr19:40054200-40054600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr19:40054400-40054600	Enhancers	Hela-S3	cervix
8	chr19:40054400-40057600	Weak transcription	Placenta	Placenta

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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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