Variant report

Variant	rs1654513
Chromosome Location	chr19:51402682-51402683
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1090649	0.93[ASN][1000 genomes]
rs1139132	0.80[ASN][1000 genomes]
rs11881354	0.81[ASN][1000 genomes]
rs1654554	0.88[ASN][1000 genomes]
rs1654556	0.90[ASN][1000 genomes]
rs1701925	0.89[ASN][1000 genomes]
rs1701926	0.93[ASN][1000 genomes]
rs1701927	0.91[ASN][1000 genomes]
rs1701929	0.92[JPT][hapmap]
rs2235091	0.81[CHB][hapmap];0.91[JPT][hapmap]
rs2569531	0.81[ASN][1000 genomes]
rs2569536	0.89[ASN][1000 genomes]
rs2659107	0.82[JPT][hapmap]
rs2739496	0.92[ASN][1000 genomes]
rs2979451	0.92[JPT][hapmap]
rs3875143	0.81[CHB][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs806019	1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[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	nsv1060760	chr19:50883425-51463712	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
2	nsv1058177	chr19:50984774-51463712	Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
3	nsv511623	chr19:51400775-51408842	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
4	esv1010378	chr19:51401144-51403251	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51399800-51403000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr19:51400600-51402800	Weak transcription	K562	blood
3	chr19:51402400-51403200	Enhancers	GM12878-XiMat	blood
4	chr19:51402600-51402800	Enhancers	Primary B cells from peripheral blood	blood

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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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