Variant report

Variant	rs1343612
Chromosome Location	chr13:53675539-53675540
allele	A/T
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:18)

rs_ID	r²[population]
rs1343603	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1343607	0.85[EUR][1000 genomes]
rs1343610	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1343611	0.83[EUR][1000 genomes]
rs1419216	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1936385	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2246208	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2806946	0.88[EUR][1000 genomes]
rs2806949	0.85[EUR][1000 genomes]
rs2806950	0.85[EUR][1000 genomes]
rs2806971	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2806974	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2806978	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2806982	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2806985	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2806994	0.84[AFR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4886119	0.83[EUR][1000 genomes]
rs7991623	0.83[EUR][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	nsv530719	chr13:53173014-53675953	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv832613	chr13:53524319-53687188	Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1050969	chr13:53665927-54064861	Bivalent Enhancer Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:53672600-53675600	Enhancers	Fetal Heart	heart
2	chr13:53674400-53675800	Enhancers	Placenta Amnion	Placenta Amnion
3	chr13:53675400-53679400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr13:53675400-53680000	Weak transcription	Pancreas	Pancrea

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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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