Variant report

Variant	rs57894733
Chromosome Location	chr8:51556773-51556774
allele	C/T
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:11)

rs_ID	r²[population]
rs73569458	1.00[AMR][1000 genomes]
rs73569463	1.00[AMR][1000 genomes]
rs73569472	1.00[AMR][1000 genomes]
rs73569494	1.00[AMR][1000 genomes]
rs73569499	1.00[AMR][1000 genomes]
rs73571223	1.00[AMR][1000 genomes]
rs73577114	1.00[AMR][1000 genomes]
rs73583401	1.00[AMR][1000 genomes]
rs73585308	1.00[AMR][1000 genomes]
rs73587053	0.82[AFR][1000 genomes]
rs7831056	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948436	chr8:51115028-51917504	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv429914	chr8:51371447-51617647	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv531502	chr8:51390997-51703556	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv3514165	chr8:51416583-51923545	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv3514166	chr8:51416583-51923545	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv890873	chr8:51462163-51612641	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv1027452	chr8:51525439-51725489	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	esv20833	chr8:51555987-51558277	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:51554800-51556800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr8:51555800-51556800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr8:51556000-51556800	Enhancers	Brain Cingulate Gyrus	brain
4	chr8:51556400-51556800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:51556400-51556800	Enhancers	Fetal Muscle Leg	muscle
6	chr8:51556400-51556800	Enhancers	Spleen	Spleen
7	chr8:51556400-51557200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr8:51556400-51559000	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr8:51556600-51556800	Enhancers	Fetal Brain Male	brain
10	chr8:51556600-51557000	Enhancers	Brain Germinal Matrix	brain
11	chr8:51556600-51558400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:51556600-51558800	Enhancers	HUVEC	blood vessel

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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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