Variant report

Variant	rs17459931
Chromosome Location	chr13:50901165-50901166
allele	C/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:15)

rs_ID	r²[population]
rs1016159	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17074018	1.00[CEU][hapmap]
rs17074037	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17361000	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17361588	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17394379	1.00[AMR][1000 genomes]
rs17395876	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17460070	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17460097	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17462949	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17473470	1.00[AMR][1000 genomes]
rs17473491	1.00[AMR][1000 genomes]
rs17474237	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17587177	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61082117	1.00[AMR][1000 genomes];1.00[EUR][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	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
6	nsv561632	chr13:50874346-50912578	Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50896000-50907800	Weak transcription	HepG2	liver
2	chr13:50900200-50901400	Enhancers	Fetal Thymus	thymus
3	chr13:50900200-50902000	Enhancers	Dnd41	blood
4	chr13:50900600-50901400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr13:50900600-50901400	Enhancers	NHDF-Ad	bronchial
6	chr13:50900600-50901400	Enhancers	Osteobl	bone
7	chr13:50900600-50901600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr13:50900800-50901200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr13:50900800-50901200	Enhancers	Thymus	Thymus
10	chr13:50900800-50901400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr13:50900800-50901400	Enhancers	Fetal Lung	lung
12	chr13:50900800-50901400	Enhancers	NHEK	skin
13	chr13:50900800-50901600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr13:50900800-50901600	Enhancers	Rectal Smooth Muscle	rectum
15	chr13:50901000-50901200	Enhancers	Colon Smooth Muscle	Colon
16	chr13:50901000-50901400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr13:50901000-50901400	Enhancers	NH-A	brain
18	chr13:50901000-50901600	Enhancers	Rectal Mucosa Donor 29	rectum

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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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