Variant report

Variant	rs13390531
Chromosome Location	chr2:56194830-56194831
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10193578	0.83[AFR][1000 genomes]
rs10496055	1.00[MEX][hapmap]
rs10518798	0.89[YRI][hapmap];1.00[AMR][1000 genomes]
rs12990534	1.00[CHD][hapmap]
rs13387379	1.00[AMR][1000 genomes]
rs13390181	0.87[AFR][1000 genomes]
rs13406874	1.00[AMR][1000 genomes]
rs17047281	1.00[MEX][hapmap]
rs17047338	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17047345	0.87[AFR][1000 genomes]
rs17047413	1.00[AMR][1000 genomes]
rs2868442	0.87[AFR][1000 genomes]
rs6734396	1.00[AMR][1000 genomes]
rs6752420	1.00[AMR][1000 genomes]
rs7572112	0.83[YRI][hapmap];0.88[AFR][1000 genomes]
rs919719	1.00[AMR][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	nsv531374	chr2:55653723-56299784	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv874161	chr2:56154316-56203798	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv2757799	chr2:56178439-56472394	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
4	esv2759051	chr2:56178439-56472394	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56191000-56195800	Enhancers	HUVEC	blood vessel
2	chr2:56193400-56202400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:56194000-56197000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr2:56194000-56197800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr2:56194000-56216200	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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