Variant report

Variant	rs8014021
Chromosome Location	chr14:39476507-39476508
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10132034	0.80[ASN][1000 genomes]
rs10149829	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs1015532	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1040837	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1176085	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs175341	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1951221	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1955917	0.93[ASN][1000 genomes]
rs1957061	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1957062	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1957063	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2038357	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2064959	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2180214	0.80[ASN][1000 genomes]
rs2180792	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2415525	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs3899404	0.87[ASN][1000 genomes]
rs4899125	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4899126	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.97[TSI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4899139	0.93[ASN][1000 genomes]
rs4899140	0.93[ASN][1000 genomes]
rs4902272	1.00[CHD][hapmap];0.81[MEX][hapmap];0.82[TSI][hapmap]
rs4902294	0.93[ASN][1000 genomes]
rs4902402	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6571886	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6571888	0.87[ASN][1000 genomes]
rs6571889	0.80[ASN][1000 genomes]
rs6571890	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs6571891	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs6571894	0.80[ASN][1000 genomes]
rs6571896	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7143480	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7147760	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs8003194	0.80[ASN][1000 genomes]
rs8004480	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8007574	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs8011855	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs8012178	0.93[ASN][1000 genomes]
rs8014255	1.00[JPT][hapmap]
rs9322993	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs970623	0.93[ASN][1000 genomes]
rs975591	0.93[ASN][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:20 , 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	chr14:39474000-39476600	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr14:39474000-39482800	Weak transcription	Right Atrium	heart
13	chr14:39474800-39477800	Weak transcription	Lung	lung
14	chr14:39474800-39482600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr14:39475000-39482600	Weak transcription	Right Ventricle	heart
16	chr14:39475000-39485600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr14:39476000-39477200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr14:39476200-39476600	Enhancers	Placenta Amnion	Placenta Amnion
19	chr14:39476400-39482600	Weak transcription	Fetal Heart	heart
20	chr14:39476400-39483000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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