Variant report

Variant	rs12471551
Chromosome Location	chr2:208995610-208995611
allele	A/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:10)

rs_ID	r²[population]
rs12464752	0.81[AMR][1000 genomes]
rs13392731	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4276012	0.81[AMR][1000 genomes]
rs4338947	0.81[AMR][1000 genomes]
rs4449112	0.81[AMR][1000 genomes]
rs6435416	0.81[AMR][1000 genomes]
rs6710715	0.81[AMR][1000 genomes]
rs6711499	0.81[AMR][1000 genomes]
rs6751246	0.81[AMR][1000 genomes]
rs7578859	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010531	chr2:208610639-209176782	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv536130	chr2:208610639-209176782	Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv534496	chr2:208814372-209302791	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv875747	chr2:208990345-209042963	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv875748	chr2:208994399-209033557	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:208989400-208999800	Weak transcription	Pancreas	Pancrea
2	chr2:208993400-209002200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:208994000-208998400	Enhancers	Fetal Intestine Large	intestine
4	chr2:208994200-208996200	Enhancers	Duodenum Mucosa	Duodenum
5	chr2:208994200-208997000	Enhancers	HMEC	breast
6	chr2:208994200-208998400	Enhancers	Fetal Intestine Small	intestine
7	chr2:208994400-208995800	Enhancers	Rectal Mucosa Donor 29	rectum
8	chr2:208994600-208995800	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr2:208994600-208996000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:208994600-208996200	Enhancers	Hela-S3	cervix
11	chr2:208994600-208999600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:208994600-209002200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:208994800-208996000	Enhancers	Stomach Mucosa	stomach
14	chr2:208995000-208997000	Enhancers	Ovary	ovary
15	chr2:208995200-208996800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr2:208995200-208996800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr2:208995400-208996400	Weak transcription	NHEK	skin
18	chr2:208995400-208996800	Weak transcription	Placenta	Placenta
19	chr2:208995600-208996200	Enhancers	HepG2	liver

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dbSNP/dbVar ID: rs12345 /nsv7879
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