Variant report

Variant	rs56292131
Chromosome Location	chr13:30736836-30736837
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:16)

rs_ID	r²[population]
rs472160	1.00[AMR][1000 genomes]
rs501877	1.00[AMR][1000 genomes]
rs501911	1.00[AMR][1000 genomes]
rs506517	1.00[AMR][1000 genomes]
rs509729	1.00[AMR][1000 genomes]
rs537597	1.00[AMR][1000 genomes]
rs564949	1.00[AMR][1000 genomes]
rs58662887	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60673071	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs631673	1.00[AMR][1000 genomes]
rs658913	1.00[AMR][1000 genomes]
rs663161	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs683993	1.00[AMR][1000 genomes]
rs74043017	1.00[AMR][1000 genomes]
rs74043029	1.00[AMR][1000 genomes]
rs74043047	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040215	chr13:30621351-30741022	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv541745	chr13:30621351-30741022	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv832572	chr13:30650005-30835256	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv981	chr13:30703159-30739838	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv561393	chr13:30726893-30748122	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30729600-30737400	Weak transcription	Spleen	Spleen
2	chr13:30733000-30740600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr13:30733400-30743600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr13:30733800-30737200	Weak transcription	Adipose Nuclei	Adipose
5	chr13:30733800-30739200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr13:30734000-30744600	Weak transcription	Primary T cells from cord blood	blood
7	chr13:30734600-30745000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr13:30736800-30737600	Weak transcription	GM12878-XiMat	blood
9	chr13:30736800-30738400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured 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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