Variant report

Variant	rs327433
Chromosome Location	chr14:81272751-81272752
allele	C/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:41)

rs_ID	r²[population]
rs10129919	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs10132871	0.81[CEU][hapmap];0.85[JPT][hapmap]
rs10498551	0.86[CHB][hapmap];0.84[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap]
rs10498552	0.85[JPT][hapmap]
rs11159475	0.87[CHB][hapmap];0.84[CHD][hapmap];0.90[GIH][hapmap];0.95[JPT][hapmap]
rs12147744	0.89[JPT][hapmap]
rs12586162	0.81[ASN][1000 genomes]
rs12586908	0.90[JPT][hapmap]
rs12587210	0.81[ASN][1000 genomes]
rs12587367	0.85[CHB][hapmap];0.94[JPT][hapmap]
rs12587844	0.90[JPT][hapmap]
rs12587883	0.95[CHD][hapmap];0.85[JPT][hapmap]
rs12588075	0.82[CHD][hapmap];0.90[GIH][hapmap];0.86[JPT][hapmap]
rs12588758	0.81[ASN][1000 genomes]
rs12589266	0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs12589935	0.87[CHB][hapmap];0.84[CHD][hapmap];0.90[GIH][hapmap];0.95[JPT][hapmap]
rs12590477	0.83[JPT][hapmap]
rs12590579	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs12880008	0.86[JPT][hapmap]
rs12882027	0.86[JPT][hapmap]
rs12885049	0.80[JPT][hapmap]
rs12885819	0.84[CHD][hapmap];0.90[GIH][hapmap];0.81[JPT][hapmap]
rs12892149	0.86[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs12892368	0.81[CHB][hapmap];0.84[JPT][hapmap]
rs1458992	0.87[CHB][hapmap];0.84[CHD][hapmap];0.90[GIH][hapmap];0.95[JPT][hapmap]
rs17111078	0.83[CHB][hapmap];0.85[JPT][hapmap]
rs17111143	0.87[CHB][hapmap];0.82[CHD][hapmap];0.90[GIH][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs17111144	0.81[ASN][1000 genomes]
rs17111151	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs17111165	0.86[JPT][hapmap]
rs17111167	0.87[CHB][hapmap];0.95[JPT][hapmap]
rs2195101	0.81[CEU][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap]
rs2300517	0.81[GIH][hapmap]
rs2371414	0.81[CHB][hapmap];0.84[JPT][hapmap]
rs2371417	0.90[GIH][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs2371461	0.82[CHD][hapmap]
rs2840052	0.81[JPT][hapmap]
rs34563443	0.81[ASN][1000 genomes]
rs3742720	0.95[CHD][hapmap];0.85[JPT][hapmap]
rs3861639	0.86[JPT][hapmap]
rs66586819	0.90[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	nsv832840	chr14:81270033-81423583	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs327433	C14orf179	cis	cerebellum	SCAN
rs327433	C14orf145	cis	cerebellum	SCAN
rs327433	C14orf145	cis	parietal	SCAN

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81192800-81305400	Weak transcription	Primary B cells from cord blood	blood
2	chr14:81251800-81282600	Weak transcription	A549	lung
3	chr14:81259400-81274000	Weak transcription	Aorta	Aorta
4	chr14:81259400-81274000	Weak transcription	Pancreas	Pancrea
5	chr14:81259400-81274200	Weak transcription	Thymus	Thymus
6	chr14:81259400-81278400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr14:81265600-81277200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr14:81265600-81284400	Weak transcription	Fetal Thymus	thymus
9	chr14:81265800-81274600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr14:81267400-81273800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr14:81267400-81284200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr14:81267400-81284800	Weak transcription	HSMM	muscle
13	chr14:81269600-81273000	Weak transcription	Fetal Lung	lung
14	chr14:81269600-81284400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr14:81270200-81273600	Weak transcription	Dnd41	blood
16	chr14:81272200-81274200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr14:81272200-81284600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr14:81272600-81275600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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