Variant report

Variant	rs73120736
Chromosome Location	chr2:234845147-234845148
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs28899475	1.00[AMR][1000 genomes]
rs28900418	1.00[AMR][1000 genomes]
rs28900714	1.00[AMR][1000 genomes]
rs28900716	1.00[AMR][1000 genomes]
rs28900976	1.00[AMR][1000 genomes]
rs28946894	1.00[AMR][1000 genomes]
rs35542629	1.00[AMR][1000 genomes]
rs3771333	1.00[AMR][1000 genomes]
rs59046407	1.00[AMR][1000 genomes]
rs61200559	1.00[AMR][1000 genomes]
rs73120730	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73120743	1.00[AFR][1000 genomes];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	nsv1013712	chr2:234558457-235495825	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv532476	chr2:234595695-235134381	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv876024	chr2:234842650-234856421	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234841800-234847600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:234843000-234845400	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr2:234844400-234845200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr2:234844800-234845400	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr2:234845000-234845200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin

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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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