Variant report

Variant	rs12374178
Chromosome Location	chr3:54315034-54315035
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs2067965	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs55719230	0.84[ASN][1000 genomes]
rs55740446	0.84[ASN][1000 genomes]
rs55773956	0.84[ASN][1000 genomes]
rs55835864	0.82[ASN][1000 genomes]
rs55865290	0.84[ASN][1000 genomes]
rs55885947	0.84[ASN][1000 genomes]
rs73081608	0.84[ASN][1000 genomes]
rs73081609	0.84[ASN][1000 genomes]
rs73081612	0.84[ASN][1000 genomes]
rs73081614	0.84[ASN][1000 genomes]
rs73089644	0.81[EUR][1000 genomes]
rs73091541	0.84[ASN][1000 genomes]
rs73091546	0.84[ASN][1000 genomes]
rs73091548	0.84[ASN][1000 genomes]
rs73091561	0.84[ASN][1000 genomes]
rs73093653	0.84[ASN][1000 genomes]
rs73093654	0.84[ASN][1000 genomes]
rs73093659	0.84[ASN][1000 genomes]
rs73093664	0.84[ASN][1000 genomes]
rs73093666	0.84[ASN][1000 genomes]
rs7427616	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[ASN][1000 genomes]
rs7427716	1.00[ASW][hapmap]
rs7429698	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[ASN][1000 genomes]
rs7431401	0.84[ASN][1000 genomes]
rs7431512	0.84[ASN][1000 genomes]
rs7433571	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003621	chr3:53448934-54425322	Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1014595	chr3:53944473-54846754	Enhancers Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1014157	chr3:54168755-54332321	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv817328	chr3:54250314-54380438	Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv876806	chr3:54256648-54330010	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12374178	TNNC1	cis	parietal	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:54314000-54317000	Weak transcription	Hela-S3	cervix
2	chr3:54314800-54315400	Enhancers	Esophagus	oesophagus
3	chr3:54314800-54315600	Enhancers	Right Atrium	heart

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