Variant report

Variant	rs56198072
Chromosome Location	chr13:76609313-76609314
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1461980	0.81[EUR][1000 genomes]
rs17065542	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4052613	0.95[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4242962	1.00[EUR][1000 genomes]
rs55780287	0.95[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs57076889	0.80[EUR][1000 genomes]
rs60058668	0.80[EUR][1000 genomes]
rs73215669	1.00[EUR][1000 genomes]
rs73215673	1.00[EUR][1000 genomes]
rs73215675	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73215686	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73215696	1.00[EUR][1000 genomes]
rs73215697	1.00[EUR][1000 genomes]
rs73217726	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73219844	0.80[EUR][1000 genomes]
rs73219846	0.80[EUR][1000 genomes]
rs73219851	0.80[EUR][1000 genomes]
rs73219852	0.95[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs73224121	0.80[EUR][1000 genomes]
rs73224127	0.80[EUR][1000 genomes]
rs73224133	0.80[EUR][1000 genomes]
rs73224154	0.95[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7985909	0.94[EUR][1000 genomes]
rs7990742	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7990852	0.81[AMR][1000 genomes]
rs7990902	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7994458	1.00[EUR][1000 genomes]
rs7997711	0.95[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9544115	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832649	chr13:76424872-76657891	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv1054431	chr13:76460431-76885094	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv541837	chr13:76460431-76885094	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv2483877	chr13:76608302-76613420	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv471735	chr13:76608545-76612872	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
6	esv2036920	chr13:76608675-76612915	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
7	nsv9089	chr13:76608693-76611897	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
8	esv3518953	chr13:76608702-76612872	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
9	esv3518964	chr13:76608863-76612759	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
10	esv13831	chr13:76609091-76612717	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76605000-76609600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr13:76605400-76609600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr13:76608000-76612000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr13:76609000-76610400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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