Variant report

Variant	rs12371537
Chromosome Location	chr12:105971425-105971426
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C12orf75-6	chr12:105971331-105973186	NONHSAT030458

Extended variants
information (count: 50 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10507192	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10507194	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10778413	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10778414	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11112585	0.87[ASN][1000 genomes]
rs11112586	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11112587	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11112588	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11112589	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11112590	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11112591	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11112592	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12296355	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12305225	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12307351	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12316204	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12321309	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12580741	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17037308	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17037312	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17037317	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17041546	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2374502	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4015312	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55646142	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58066965	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59504344	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60865625	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61200462	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61645733	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6539218	0.85[ASN][1000 genomes]
rs66754070	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs68053161	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7299470	0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73184077	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73184078	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73184081	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73184083	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73184084	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7956435	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7959699	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7969390	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7969416	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7969421	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7969556	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs871219	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs871220	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs941101	0.88[EUR][1000 genomes];0.91[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	nsv832507	chr12:105821685-106005186	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1039068	chr12:105935786-106211250	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12371537	PAH	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105956600-105979000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:105965000-105979000	Weak transcription	Aorta	Aorta
3	chr12:105969800-105978000	Weak transcription	HSMMtube	muscle
4	chr12:105970200-105974200	Weak transcription	Esophagus	oesophagus
5	chr12:105970600-105973800	Weak transcription	Hela-S3	cervix
6	chr12:105971000-105973600	Strong transcription	HUVEC	blood vessel
7	chr12:105971400-105971600	Enhancers	Left Ventricle	heart
8	chr12:105971400-105971800	Enhancers	Fetal Lung	lung

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