Variant report

Variant	rs73680334
Chromosome Location	chr8:54777982-54777983
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11990964	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57594047	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57924266	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59128603	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60296248	1.00[AMR][1000 genomes]
rs60437052	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60515635	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73680313	1.00[AMR][1000 genomes]
rs73680331	0.86[AFR][1000 genomes]
rs73680336	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73680345	1.00[EUR][1000 genomes]
rs73680347	1.00[EUR][1000 genomes]
rs73680348	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73680349	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73680350	1.00[AMR][1000 genomes];1.00[EUR][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	nsv1021775	chr8:54631303-54827173	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv539621	chr8:54631303-54827173	Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54759200-54780200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:54775800-54778200	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr8:54776000-54778400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr8:54776200-54780400	Weak transcription	NHDF-Ad	bronchial
5	chr8:54776800-54780800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr8:54777000-54778000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr8:54777600-54778600	Weak transcription	Brain Anterior Caudate	brain
8	chr8:54777800-54778000	Enhancers	HepG2	liver
9	chr8:54777800-54784200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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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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