Variant report

Variant	rs12878699
Chromosome Location	chr14:32371775-32371776
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10132040	0.81[EUR][1000 genomes]
rs10144558	0.81[EUR][1000 genomes]
rs12147853	0.90[ASN][1000 genomes]
rs1278866	0.99[ASN][1000 genomes]
rs1278867	0.99[ASN][1000 genomes]
rs1278868	0.99[ASN][1000 genomes]
rs12897964	0.99[ASN][1000 genomes]
rs1953271	0.88[ASN][1000 genomes]
rs1953272	0.88[ASN][1000 genomes]
rs1953273	0.90[ASN][1000 genomes]
rs1963748	0.88[ASN][1000 genomes]
rs2378971	0.88[ASN][1000 genomes]
rs34855165	0.99[ASN][1000 genomes]
rs35304997	0.99[ASN][1000 genomes]
rs4981926	0.85[ASN][1000 genomes]
rs4981927	0.85[ASN][1000 genomes]
rs4981930	0.81[EUR][1000 genomes]
rs55890730	0.97[ASN][1000 genomes]
rs56232824	0.99[ASN][1000 genomes]
rs57516226	0.85[ASN][1000 genomes]
rs8008105	0.85[ASN][1000 genomes]
rs8008595	0.81[ASN][1000 genomes]
rs8009593	0.81[ASN][1000 genomes]
rs8016828	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv564182	chr14:32110519-32584337	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv1046526	chr14:32110537-32567426	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv526200	chr14:32308511-32454372	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv519917	chr14:32363980-32375359	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv2760330	chr14:32364547-32377760	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv1040337	chr14:32364547-32387656	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:32367200-32376200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr14:32370400-32372600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr14:32370400-32373200	Enhancers	K562	blood
4	chr14:32370800-32372200	Enhancers	Fetal Intestine Small	intestine
5	chr14:32370800-32372600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr14:32370800-32372600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr14:32370800-32372600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr14:32370800-32372800	Enhancers	HMEC	breast
9	chr14:32370800-32372800	Enhancers	NHEK	skin
10	chr14:32371000-32372200	Enhancers	Fetal Intestine Large	intestine
11	chr14:32371000-32372200	Enhancers	Placenta Amnion	Placenta Amnion
12	chr14:32371000-32372800	Enhancers	Stomach Mucosa	stomach
13	chr14:32371000-32372800	Enhancers	Hela-S3	cervix
14	chr14:32371200-32372600	Enhancers	Pancreas	Pancrea
15	chr14:32371600-32372200	Weak transcription	HUES6 Cell Line	embryonic stem cell

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