Variant report

Variant	rs1951226
Chromosome Location	chr14:39374796-39374797
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1007415	0.88[ASN][1000 genomes]
rs10134739	0.90[ASN][1000 genomes]
rs1028591	0.83[ASN][1000 genomes]
rs1040836	0.83[ASN][1000 genomes]
rs12883114	0.88[CEU][hapmap];0.95[CHB][hapmap]
rs12883946	0.83[ASN][1000 genomes]
rs12887605	0.83[ASN][1000 genomes]
rs12895569	0.81[ASN][1000 genomes]
rs17607605	0.83[ASN][1000 genomes]
rs17616347	0.88[CEU][hapmap];0.95[CHB][hapmap];0.81[CHD][hapmap]
rs17670531	0.83[ASN][1000 genomes]
rs17676972	0.81[ASN][1000 genomes]
rs1884383	0.88[CEU][hapmap];0.95[CHB][hapmap];0.81[CHD][hapmap]
rs1885143	0.90[ASN][1000 genomes]
rs1950508	0.88[CEU][hapmap];0.95[CHB][hapmap]
rs1960796	0.83[ASN][1000 genomes]
rs2025060	0.81[ASN][1000 genomes]
rs2025062	0.81[ASN][1000 genomes]
rs2144526	0.82[ASN][1000 genomes]
rs2144527	0.96[CEU][hapmap];0.95[CHB][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs2273315	0.85[CHB][hapmap]
rs34292075	0.83[ASN][1000 genomes]
rs35873738	0.83[ASN][1000 genomes]
rs35976812	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs61338087	0.83[ASN][1000 genomes]
rs6571879	0.88[ASN][1000 genomes]
rs6571880	0.90[ASN][1000 genomes]
rs7140282	0.88[CEU][hapmap];0.95[CHB][hapmap];0.81[CHD][hapmap]
rs7143056	0.83[ASN][1000 genomes]
rs7143370	0.82[ASN][1000 genomes]
rs7151407	0.81[ASN][1000 genomes]
rs7154223	0.81[ASN][1000 genomes]
rs743222	0.88[ASN][1000 genomes]
rs7493678	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8007240	0.88[CEU][hapmap];0.95[CHB][hapmap]
rs8020013	0.96[CEU][hapmap];0.95[CHB][hapmap];0.85[JPT][hapmap];0.80[ASN][1000 genomes]
rs8020321	0.88[CEU][hapmap];0.95[CHB][hapmap];0.81[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 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
5	nsv974458	chr14:39365606-39374972	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv901656	chr14:39370726-39423339	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1951226	TRAPPC6B	cis	multi-tissue	Pritchard
rs1951226	SEC23A	cis	cerebellum	SCAN
rs1951226	SEC23A	cis	parietal	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39370400-39375600	Weak transcription	Brain Substantia Nigra	brain
2	chr14:39370600-39378200	Weak transcription	Brain Hippocampus Middle	brain

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