Variant report

Variant	rs12306309
Chromosome Location	chr12:40867190-40867191
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11177021	1.00[AMR][1000 genomes]
rs12309805	1.00[AMR][1000 genomes]
rs12321694	1.00[AMR][1000 genomes]
rs12321696	1.00[AMR][1000 genomes]
rs56126928	1.00[AMR][1000 genomes]
rs7312154	0.94[AFR][1000 genomes]
rs74079041	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	nsv899033	chr12:40758652-41122288	Bivalent/Poised TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv518952	chr12:40857620-40867333	Enhancers Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	esv1848303	chr12:40867011-40887238	Enhancers Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40864000-40867600	Weak transcription	Fetal Heart	heart
2	chr12:40866400-40869400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:40866600-40870600	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr12:40867000-40869000	Enhancers	H9 Cell Line	embryonic stem cell

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