Variant report

Variant	rs8008452
Chromosome Location	chr14:39336152-39336153
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10136471	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1885140	0.81[ASN][1000 genomes]
rs1957055	0.80[ASN][1000 genomes]
rs2104091	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7150541	0.80[ASN][1000 genomes]
rs7152381	0.89[AFR][1000 genomes]
rs8003775	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv564416	chr14:39140536-39440106	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv470631	chr14:39153764-39440106	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	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
4	nsv932194	chr14:39173578-39411337	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8008452	C14orf19	cis	cerebellum	SCAN
rs8008452	NKX2-8	cis	parietal	SCAN

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39334200-39336600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr14:39334600-39336800	Enhancers	Brain Inferior Temporal Lobe	brain
3	chr14:39334800-39336800	Enhancers	Brain Anterior Caudate	brain
4	chr14:39334800-39337200	Enhancers	Brain Angular Gyrus	brain
5	chr14:39334800-39339000	Enhancers	Brain Cingulate Gyrus	brain
6	chr14:39334800-39340000	Enhancers	Brain Hippocampus Middle	brain
7	chr14:39334800-39340200	Enhancers	Brain Substantia Nigra	brain
8	chr14:39335000-39336200	Enhancers	Fetal Stomach	stomach
9	chr14:39335000-39336800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr14:39335000-39337000	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr14:39335200-39336400	Enhancers	Fetal Heart	heart
12	chr14:39335200-39336800	Enhancers	Primary hematopoietic stem cells	blood
13	chr14:39335200-39337400	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr14:39335200-39337600	Weak transcription	Pancreas	Pancrea
15	chr14:39335400-39336200	Enhancers	Fetal Intestine Large	intestine
16	chr14:39335400-39336200	Enhancers	Rectal Mucosa Donor 29	rectum
17	chr14:39335400-39336400	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr14:39335600-39336200	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr14:39335600-39336400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr14:39335600-39336800	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr14:39335600-39337000	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr14:39335600-39337600	Enhancers	Fetal Intestine Small	intestine
23	chr14:39335800-39336200	Weak transcription	Fetal Lung	lung
24	chr14:39335800-39336400	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr14:39335800-39336600	Weak transcription	Fetal Kidney	kidney
26	chr14:39335800-39336600	Enhancers	Psoas Muscle	Psoas
27	chr14:39335800-39337000	Enhancers	HUVEC	blood vessel
28	chr14:39336000-39336600	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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