Variant report

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10138508	0.84[ASN][1000 genomes]
rs11625785	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17108408	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17108415	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17108433	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17605463	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1885138	0.86[ASN][1000 genomes]
rs1885139	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1957048	0.82[ASN][1000 genomes]
rs2093267	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2104092	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2145604	0.81[ASN][1000 genomes]
rs2145605	0.82[ASN][1000 genomes]
rs2180879	0.81[ASN][1000 genomes]
rs4902223	0.81[EUR][1000 genomes]
rs56143253	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62001072	0.83[ASN][1000 genomes]
rs7142768	0.82[ASN][1000 genomes]
rs7144708	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7145908	0.83[ASN][1000 genomes]
rs7158719	0.82[ASN][1000 genomes]
rs988420	0.83[ASN][1000 genomes]
rs990487	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1951218	SNX6	cis	parietal	SCAN

Chromatin state (count:17 , 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	chr14:39334600-39335600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr14:39334600-39336800	Enhancers	Brain Inferior Temporal Lobe	brain
4	chr14:39334800-39336800	Enhancers	Brain Anterior Caudate	brain
5	chr14:39334800-39337200	Enhancers	Brain Angular Gyrus	brain
6	chr14:39334800-39339000	Enhancers	Brain Cingulate Gyrus	brain
7	chr14:39334800-39340000	Enhancers	Brain Hippocampus Middle	brain
8	chr14:39334800-39340200	Enhancers	Brain Substantia Nigra	brain
9	chr14:39335000-39335400	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr14:39335000-39336200	Enhancers	Fetal Stomach	stomach
11	chr14:39335000-39336800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr14:39335000-39337000	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr14:39335200-39336000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr14:39335200-39336400	Enhancers	Fetal Heart	heart
15	chr14:39335200-39336800	Enhancers	Primary hematopoietic stem cells	blood
16	chr14:39335200-39337400	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr14:39335200-39337600	Weak transcription	Pancreas	Pancrea

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