Variant report

Variant	rs74099678
Chromosome Location	chr12:65188625-65188626
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs17100621	1.00[AMR][1000 genomes]
rs2230292	0.83[AFR][1000 genomes]
rs55747137	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56739324	1.00[AMR][1000 genomes]
rs58327448	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58606781	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60988778	1.00[AMR][1000 genomes]
rs74098643	0.83[AFR][1000 genomes]
rs74099588	1.00[AMR][1000 genomes]
rs74099656	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74099664	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74099673	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74099681	1.00[AMR][1000 genomes]
rs74099683	0.84[AFR][1000 genomes]
rs74099686	0.83[AFR][1000 genomes]
rs74099691	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74099695	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv559203	chr12:65002969-65199922	Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv469457	chr12:65009243-65195977	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv559204	chr12:65009243-65195977	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:65175800-65196000	Weak transcription	Lung	lung
2	chr12:65176800-65188800	Weak transcription	Pancreas	Pancrea
3	chr12:65176800-65189600	Weak transcription	Hela-S3	cervix
4	chr12:65176800-65193800	Weak transcription	Duodenum Mucosa	Duodenum
5	chr12:65178800-65193400	Weak transcription	Fetal Intestine Large	intestine
6	chr12:65181800-65188800	Weak transcription	Fetal Intestine Small	intestine
7	chr12:65187800-65191600	Enhancers	HepG2	liver
8	chr12:65188000-65189800	Weak transcription	HUES64 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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