Variant report

Variant	rs73246168
Chromosome Location	chr8:65294079-65294080
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:13)

rs_ID	r²[population]
rs58442893	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58715144	0.83[AMR][1000 genomes]
rs58897334	0.83[AMR][1000 genomes]
rs59330690	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59355904	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73234031	1.00[AMR][1000 genomes]
rs73246180	0.95[AFR][1000 genomes]
rs73246189	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73246200	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73248315	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73248316	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73248341	1.00[AMR][1000 genomes]
rs73248376	0.81[AFR][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	nsv948343	chr8:64804219-65328394	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
2	nsv534001	chr8:64992196-65798776	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
3	esv1825065	chr8:65244654-65311200	Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
4	nsv523097	chr8:65283691-65295491	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:65290600-65294600	Transcr. at gene 5' and 3'	Fetal Brain Female	brain
2	chr8:65290600-65295000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr8:65290600-65296800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:65291200-65294600	Strong transcription	Cortex derived primary cultured neurospheres	brain
5	chr8:65292200-65294200	Weak transcription	Brain Anterior Caudate	brain
6	chr8:65292800-65294400	Genic enhancers	Fetal Brain Male	brain
7	chr8:65293400-65294400	Strong transcription	Brain Germinal Matrix	brain
8	chr8:65293400-65297000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:65293400-65298000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr8:65293600-65294800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
11	chr8:65293800-65294800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
12	chr8:65293800-65294800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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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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