Variant report

Variant	rs17108729
Chromosome Location	chr14:39477091-39477092
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10872914	0.94[ASN][1000 genomes]
rs11157039	0.94[ASN][1000 genomes]
rs11157040	0.94[ASN][1000 genomes]
rs11622034	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11622736	0.82[JPT][hapmap];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11622795	0.82[JPT][hapmap];0.90[YRI][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11625924	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11626118	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11627346	0.89[CEU][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12433553	0.81[AMR][1000 genomes]
rs12435055	0.82[AMR][1000 genomes]
rs17108549	0.82[AMR][1000 genomes]
rs17108591	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17108710	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17108735	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17108737	0.94[ASN][1000 genomes]
rs17616038	1.00[CHB][hapmap];0.81[JPT][hapmap];0.93[ASN][1000 genomes]
rs17616116	0.82[CHB][hapmap];0.93[ASN][1000 genomes]
rs1884385	1.00[CHB][hapmap];0.81[JPT][hapmap];0.93[ASN][1000 genomes]
rs2415523	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56231378	0.81[AMR][1000 genomes]
rs56869057	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57014289	0.94[ASN][1000 genomes]
rs58589656	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58904099	0.82[AMR][1000 genomes]
rs59717515	0.81[AMR][1000 genomes]
rs60444423	0.89[ASN][1000 genomes]
rs62001097	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62001098	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62001099	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62001129	0.93[ASN][1000 genomes]
rs7157388	1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[JPT][hapmap];0.92[ASN][1000 genomes]
rs72645014	0.82[AMR][1000 genomes]
rs72645015	0.82[AMR][1000 genomes]
rs74050459	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8005437	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8005797	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8007642	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs927296	0.82[AMR][1000 genomes]
rs970622	0.94[ASN][1000 genomes]
rs983694	0.95[AMR][1000 genomes];0.88[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	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

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	chr14:39474800-39477800	Weak transcription	Lung	lung
13	chr14:39474800-39482600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr14:39475000-39482600	Weak transcription	Right Ventricle	heart
15	chr14:39475000-39485600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr14:39476000-39477200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr14:39476400-39482600	Weak transcription	Fetal Heart	heart
18	chr14:39476400-39483000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr14:39476800-39477200	Enhancers	Placenta Amnion	Placenta Amnion

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