Variant report

Variant	rs56869057
Chromosome Location	chr14:39477996-39477997
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10872914	0.94[ASN][1000 genomes]
rs11157039	0.94[ASN][1000 genomes]
rs11157040	0.94[ASN][1000 genomes]
rs11622034	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11622736	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11622795	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11625924	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11626118	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11627346	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12435055	0.80[AMR][1000 genomes]
rs17108549	0.80[AMR][1000 genomes]
rs17108591	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17108710	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17108729	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17108735	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17108737	0.94[ASN][1000 genomes]
rs17616038	0.93[ASN][1000 genomes]
rs17616116	0.93[ASN][1000 genomes]
rs1884385	0.93[ASN][1000 genomes]
rs2415523	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57014289	0.94[ASN][1000 genomes]
rs58589656	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58904099	0.80[AMR][1000 genomes]
rs60444423	0.89[ASN][1000 genomes]
rs62001097	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62001098	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62001099	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62001129	0.93[ASN][1000 genomes]
rs7157388	0.92[ASN][1000 genomes]
rs72645014	0.80[AMR][1000 genomes]
rs72645015	0.80[AMR][1000 genomes]
rs74050459	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8005437	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8005797	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8007642	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs927296	0.80[AMR][1000 genomes]
rs970622	0.94[ASN][1000 genomes]
rs983694	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3429206	chr14:39160730-39648836	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv1038622	chr14:39423562-39604035	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv564417	chr14:39452317-39535560	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv976332	chr14:39477729-39478988	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39462200-39480400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr14:39463600-39495200	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr14:39464200-39483000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr14:39464800-39492600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr14:39465600-39498200	Weak transcription	NH-A	brain
6	chr14:39466000-39481000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr14:39466000-39483000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr14:39469200-39497400	Weak transcription	HSMM	muscle
9	chr14:39473400-39498800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr14:39473800-39485400	Weak transcription	HSMMtube	muscle
11	chr14:39474000-39482800	Weak transcription	Right Atrium	heart
12	chr14:39474800-39482600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr14:39475000-39482600	Weak transcription	Right Ventricle	heart
14	chr14:39475000-39485600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr14:39476400-39482600	Weak transcription	Fetal Heart	heart
16	chr14:39476400-39483000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr14:39477400-39478000	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr14:39477800-39478000	Enhancers	Lung	lung
19	chr14:39477800-39479000	Enhancers	HepG2	liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links