Variant report

Variant	rs56350957
Chromosome Location	chr5:117017675-117017676
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs2177942	1.00[AMR][1000 genomes]
rs55952605	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56328926	1.00[AMR][1000 genomes]
rs6890211	1.00[AMR][1000 genomes]
rs73784688	1.00[AMR][1000 genomes]
rs73784698	1.00[AMR][1000 genomes]
rs73786906	1.00[AMR][1000 genomes]
rs73786910	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73786913	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73786917	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73786918	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73786929	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73786930	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73786933	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73786947	1.00[AMR][1000 genomes]
rs7722423	1.00[AMR][1000 genomes]
rs7722823	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7724234	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	nsv882757	chr5:116810010-117042759	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv1016664	chr5:116888074-117181273	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1019332	chr5:116888074-117248632	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1027932	chr5:117004237-117061745	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
5	nsv519949	chr5:117005690-117055145	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:117014600-117019200	Enhancers	HSMMtube	muscle
2	chr5:117014800-117019400	Enhancers	Fetal Heart	heart
3	chr5:117015200-117018200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr5:117016200-117018800	Enhancers	Muscle Satellite Cultured Cells	--
5	chr5:117017000-117017800	Enhancers	Fetal Kidney	kidney
6	chr5:117017200-117019600	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr5:117017400-117017800	Enhancers	Fetal Stomach	stomach
8	chr5:117017400-117017800	Enhancers	Pancreas	Pancrea
9	chr5:117017400-117017800	Enhancers	NHDF-Ad	bronchial
10	chr5:117017400-117018000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr5:117017400-117018000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr5:117017600-117018600	Weak transcription	Cortex derived primary cultured neurospheres	brain

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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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