Variant report

Variant	rs57987047
Chromosome Location	chr12:105344612-105344613
allele	-/AC/CA
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]
rs10778354	0.84[EUR][1000 genomes]
rs10778356	0.82[EUR][1000 genomes]
rs10861291	0.81[EUR][1000 genomes]
rs10861297	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11112234	0.84[EUR][1000 genomes]
rs12230601	0.82[EUR][1000 genomes]
rs2245695	0.81[EUR][1000 genomes]
rs2252843	0.82[EUR][1000 genomes]
rs2264883	0.81[EUR][1000 genomes]
rs2264893	0.84[EUR][1000 genomes]
rs2468396	0.86[EUR][1000 genomes]
rs2468397	0.82[EUR][1000 genomes]
rs4257060	0.90[EUR][1000 genomes]
rs4409923	0.83[EUR][1000 genomes]
rs4537841	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4630370	0.91[EUR][1000 genomes]
rs7959777	0.83[EUR][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	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv899498	chr12:105173598-105461620	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
3	nsv832505	chr12:105315352-105497765	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105333200-105346200	Weak transcription	HepG2	liver
2	chr12:105338200-105349000	Weak transcription	Pancreas	Pancrea
3	chr12:105338200-105351000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr12:105338400-105346600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:105342600-105350600	Weak transcription	Adipose Nuclei	Adipose
6	chr12:105342800-105345200	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr12:105342800-105345200	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr12:105342800-105346000	Weak transcription	Duodenum Mucosa	Duodenum
9	chr12:105342800-105346000	Weak transcription	Small Intestine	intestine
10	chr12:105343400-105345200	Enhancers	Stomach Mucosa	stomach
11	chr12:105344200-105346600	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