Variant report

Variant	rs9596012
Chromosome Location	chr13:49383020-49383021
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10220151	0.85[EUR][1000 genomes]
rs11840346	1.00[EUR][1000 genomes]
rs11840607	1.00[EUR][1000 genomes]
rs57623504	1.00[EUR][1000 genomes]
rs74074768	1.00[EUR][1000 genomes]
rs9591212	1.00[EUR][1000 genomes]
rs9591214	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9591215	1.00[EUR][1000 genomes]
rs9595999	1.00[EUR][1000 genomes]
rs9596000	1.00[EUR][1000 genomes]
rs9596001	1.00[EUR][1000 genomes]
rs9596005	1.00[EUR][1000 genomes]
rs9596006	1.00[EUR][1000 genomes]
rs9596008	1.00[EUR][1000 genomes]
rs9596010	1.00[EUR][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	nsv1049117	chr13:49089476-49928945	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS 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 target site	42 gene(s)	inside rSNPs	diseases
2	esv2758327	chr13:49283983-49472517	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv2759936	chr13:49283983-49472517	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv832606	chr13:49352212-49506009	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49376000-49383400	Weak transcription	NHLF	lung
2	chr13:49380600-49392400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr13:49381800-49383200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr13:49382800-49383200	Enhancers	Hela-S3	cervix
5	chr13:49382800-49383600	Enhancers	NHDF-Ad	bronchial
6	chr13:49383000-49383400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr13:49383000-49383600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr13:49383000-49383600	Enhancers	HSMM	muscle
9	chr13:49383000-49383600	Enhancers	K562	blood
10	chr13:49383000-49383600	Enhancers	NH-A	brain
11	chr13:49383000-49383800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr13:49383000-49384000	Enhancers	Osteobl	bone
13	chr13:49383000-49384800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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