Variant report

Variant	rs72742114
Chromosome Location	chr1:193362977-193362978
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12116651	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12117877	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12130838	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12133955	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12137353	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12140787	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12141455	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17528639	0.90[AMR][1000 genomes]
rs17529089	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17601491	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72740302	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72742104	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72742110	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72742119	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72742120	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001174	chr1:193186758-193363372	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv997891	chr1:193271839-193566441	Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1004003	chr1:193322299-193477254	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv535253	chr1:193322299-193477254	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv832159	chr1:193342434-193525072	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv998663	chr1:193343230-193574004	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv535254	chr1:193343230-193574004	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193357800-193375600	Weak transcription	Fetal Lung	lung
2	chr1:193362600-193363200	Weak transcription	Sigmoid Colon	Sigmoid Colon

Quick Search:

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

what's new

Quick links