Variant report

Variant	rs1275562
Chromosome Location	chr12:76220591-76220592
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1275566	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1275611	0.84[YRI][hapmap]
rs1275622	0.84[YRI][hapmap]
rs1275623	0.89[AFR][1000 genomes]
rs1275624	0.92[AFR][1000 genomes]
rs1291264	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1296567	1.00[ASW][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[YRI][hapmap]
rs17115808	0.92[AFR][1000 genomes]
rs1732752	0.87[AMR][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	nsv1040583	chr12:75742802-76360276	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv948653	chr12:75773464-76220618	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv832463	chr12:76136551-76316703	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv899315	chr12:76163309-76385096	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv1041730	chr12:76198863-76331900	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:76208800-76221200	Enhancers	NHLF	lung
2	chr12:76215000-76220600	Enhancers	NHDF-Ad	bronchial
3	chr12:76215000-76223800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr12:76216000-76221200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:76216600-76223800	Weak transcription	Fetal Lung	lung
6	chr12:76217400-76220600	Enhancers	Muscle Satellite Cultured Cells	--
7	chr12:76218000-76220800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr12:76218600-76223400	Weak transcription	HepG2	liver
9	chr12:76219600-76220800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr12:76219600-76221000	Enhancers	NHEK	skin
11	chr12:76219600-76221200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr12:76219600-76221200	Enhancers	HMEC	breast
13	chr12:76220200-76225200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr12:76220200-76225200	Weak transcription	Hela-S3	cervix
15	chr12:76220200-76225200	Weak transcription	NH-A	brain
16	chr12:76220400-76225200	Weak transcription	Osteobl	bone
17	chr12:76220400-76230000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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dbSNP/dbVar ID: rs12345 /nsv7879
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