Variant report

Variant	rs8004480
Chromosome Location	chr14:39462530-39462531
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1015532	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1040837	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1176085	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1951221	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1955917	0.80[ASN][1000 genomes]
rs1957061	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1957062	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1957063	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2064959	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4899125	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4899126	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4899139	0.80[ASN][1000 genomes]
rs4899140	0.80[ASN][1000 genomes]
rs4902294	0.80[ASN][1000 genomes]
rs6571886	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7143480	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8007574	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8012178	0.80[ASN][1000 genomes]
rs8014021	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs970623	0.80[ASN][1000 genomes]
rs975591	0.80[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	chr14:39450000-39465000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr14:39455600-39464800	Weak transcription	Psoas Muscle	Psoas
3	chr14:39455800-39465200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr14:39457800-39463800	Weak transcription	Brain Cingulate Gyrus	brain
5	chr14:39458400-39465000	Enhancers	HUVEC	blood vessel
6	chr14:39458800-39463800	Weak transcription	Brain Substantia Nigra	brain
7	chr14:39459000-39463800	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr14:39459000-39464800	Weak transcription	Right Atrium	heart
9	chr14:39459200-39463800	Weak transcription	Brain Anterior Caudate	brain
10	chr14:39459400-39464000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr14:39459600-39463600	Weak transcription	Brain Hippocampus Middle	brain
12	chr14:39459600-39463800	Weak transcription	Duodenum Mucosa	Duodenum
13	chr14:39459600-39463800	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr14:39459600-39464600	Weak transcription	Left Ventricle	heart
15	chr14:39459600-39469000	Weak transcription	Stomach Mucosa	stomach
16	chr14:39459800-39463800	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr14:39460600-39463000	Weak transcription	Fetal Brain Male	brain
18	chr14:39461800-39462800	Weak transcription	Fetal Lung	lung
19	chr14:39461800-39463000	Enhancers	Adipose Nuclei	Adipose
20	chr14:39462200-39480400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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