Variant report

Variant	rs57930391
Chromosome Location	chr14:77682017-77682018
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1122180	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs440094	0.81[AFR][1000 genomes]
rs56877603	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58929764	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60701738	1.00[AMR][1000 genomes]
rs60710489	1.00[AMR][1000 genomes]
rs61363370	0.94[AFR][1000 genomes]
rs73303563	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73303571	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73303578	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73303586	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73307238	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73307242	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73309135	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73309138	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8003960	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431017	chr14:76938089-77854647	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	107 gene(s)	inside rSNPs	diseases
2	nsv832834	chr14:77554987-77724357	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:77654200-77709400	Weak transcription	Esophagus	oesophagus
2	chr14:77671000-77685200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr14:77671000-77686200	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr14:77673600-77683400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr14:77674600-77685400	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr14:77674800-77686400	Weak transcription	Brain Substantia Nigra	brain
7	chr14:77679400-77686200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr14:77679600-77686000	Weak transcription	Brain Anterior Caudate	brain
9	chr14:77680000-77686000	Weak transcription	Spleen	Spleen
10	chr14:77680000-77686600	Weak transcription	Brain Angular Gyrus	brain
11	chr14:77680200-77685000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr14:77680200-77685600	Weak transcription	Fetal Brain Female	brain
13	chr14:77680200-77688000	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr14:77681600-77683000	Enhancers	Fetal Brain Male	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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