Variant report

Variant	rs12878113
Chromosome Location	chr14:81032528-81032529
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10135604	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10138431	0.84[JPT][hapmap]
rs10139763	0.81[EUR][1000 genomes]
rs10140845	0.84[JPT][hapmap]
rs10145319	0.85[ASN][1000 genomes]
rs10148083	0.84[JPT][hapmap]
rs10149210	1.00[ASN][1000 genomes]
rs10498544	0.86[CEU][hapmap];0.84[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.88[TSI][hapmap];0.91[EUR][1000 genomes]
rs11844906	0.90[CEU][hapmap];0.85[EUR][1000 genomes]
rs12587285	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.94[MEX][hapmap];0.96[TSI][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12881248	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12886241	0.86[CEU][hapmap];0.84[JPT][hapmap];0.88[TSI][hapmap];0.91[EUR][1000 genomes]
rs17110851	0.93[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes]
rs17110854	0.93[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes]
rs17110914	0.93[CEU][hapmap];0.85[EUR][1000 genomes]
rs17110926	0.93[CEU][hapmap];0.86[EUR][1000 genomes]
rs2290168	0.86[CEU][hapmap];0.84[JPT][hapmap];0.90[EUR][1000 genomes]
rs2619659	0.89[CHB][hapmap]
rs34019777	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34481438	0.84[EUR][1000 genomes]
rs34489190	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34536975	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34946091	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35038680	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35426127	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35505520	0.88[EUR][1000 genomes]
rs35817733	0.90[EUR][1000 genomes]
rs35930082	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56256007	0.85[EUR][1000 genomes]
rs61979379	0.86[EUR][1000 genomes]
rs61981704	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61981706	0.88[EUR][1000 genomes]
rs6574594	0.93[CEU][hapmap];0.82[GIH][hapmap];0.84[MEX][hapmap];0.96[TSI][hapmap];0.86[EUR][1000 genomes]
rs67116258	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7144224	0.82[EUR][1000 genomes]
rs7149459	0.93[CEU][hapmap];0.82[GIH][hapmap];0.89[MEX][hapmap];0.96[TSI][hapmap];0.86[EUR][1000 genomes]
rs8016151	1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs8017175	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9323688	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	nsv902116	chr14:81018237-81082400	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12878113	C14orf145	cis	cerebellum	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81028400-81033400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:81029600-81044800	Weak transcription	Dnd41	blood
3	chr14:81031600-81032600	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr14:81032000-81033400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr14:81032000-81034000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr14:81032200-81034400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr14:81032400-81040400	Weak transcription	HUES48 Cell Line	embryonic stem cell

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