Variant report

Variant	rs806357
Chromosome Location	chr13:50873422-50873423
allele	C/G
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:14)

rs_ID	r²[population]
rs706604	0.83[AMR][1000 genomes]
rs806304	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs806307	0.83[AMR][1000 genomes]
rs806310	0.83[AMR][1000 genomes]
rs806329	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs806333	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs806340	0.83[AMR][1000 genomes]
rs806342	0.83[AMR][1000 genomes]
rs806343	0.83[AMR][1000 genomes]
rs806345	0.83[AMR][1000 genomes]
rs806347	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs806350	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs806351	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs806358	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035151	chr13:50513535-51167850	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1254 gene(s)	inside rSNPs	diseases
2	esv2753964	chr13:50545399-51421199	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
3	esv2753492	chr13:50550081-51461720	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
4	esv2752608	chr13:50550099-51054499	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1249 gene(s)	inside rSNPs	diseases
5	nsv832608	chr13:50678628-50888413	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
6	nsv900076	chr13:50710579-50912578	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50872800-50873800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr13:50873200-50873600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr13:50873200-50873800	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr13:50873400-50873800	Enhancers	NH-A	brain
5	chr13:50873400-50874000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr13:50873400-50874200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr13:50873400-50874200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr13:50873400-50874200	Enhancers	Placenta Amnion	Placenta Amnion
9	chr13:50873400-50874400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr13:50873400-50874600	Enhancers	HMEC	breast
11	chr13:50873400-50874600	Enhancers	HSMM	muscle

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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