Variant report

Variant	rs354129
Chromosome Location	chr12:30504785-30504786
allele	C/T
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:7)

rs_ID	r²[population]
rs34518611	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs354123	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs354124	1.00[AMR][1000 genomes]
rs354130	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs354152	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs354154	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs532045	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832360	chr12:30393329-30555693	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	esv3343291	chr12:30455597-30992837	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	esv11198	chr12:30496609-30508640	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
4	esv2754065	chr12:30499833-30560733	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv33254	chr12:30504075-30509365	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv20299	chr12:30504450-30506351	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
7	esv1826057	chr12:30504463-30505946	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
8	esv1830841	chr12:30504463-30505946	Enhancers Weak transcription	n/a	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	chr12:30501400-30510800	Weak transcription	Fetal Heart	heart
2	chr12:30503800-30505200	Enhancers	Liver	Liver

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