Variant report

Variant	rs17519
Chromosome Location	chr14:81087894-81087895
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10498547	0.83[ASN][1000 genomes]
rs11159470	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11159471	0.83[ASN][1000 genomes]
rs12589019	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12589109	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1871458	0.91[CHB][hapmap];0.88[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs34201956	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4903927	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4903930	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4903931	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6574592	1.00[ASN][1000 genomes]
rs66523962	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7141390	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7142417	0.91[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs71430713	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7144036	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7144975	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7145447	0.85[CEU][hapmap];0.82[CHD][hapmap];0.83[ASN][1000 genomes]
rs7152126	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7156452	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7158869	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7159302	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8003492	1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs8006458	0.82[EUR][1000 genomes]
rs8007955	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8008167	0.82[EUR][1000 genomes]
rs8013202	0.85[ASN][1000 genomes]
rs8013610	0.87[ASN][1000 genomes]
rs8018031	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869348	chr14:80921098-81535754	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv565290	chr14:81085129-81230117	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs17519	C14orf145	cis	parietal	SCAN
rs17519	POMT2	cis	cerebellum	SCAN
rs17519	C14orf145	cis	cerebellum	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81083400-81109400	Weak transcription	Dnd41	blood
2	chr14:81083600-81088200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr14:81086000-81088200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr14:81086600-81088400	Enhancers	A549	lung
5	chr14:81086600-81088600	Enhancers	Hela-S3	cervix
6	chr14:81087000-81088600	Enhancers	NHDF-Ad	bronchial
7	chr14:81087400-81104200	Weak transcription	HSMM	muscle
8	chr14:81087800-81088800	Enhancers	HUVEC	blood vessel

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