Variant report

Variant	rs1152491
Chromosome Location	chr14:56796564-56796565
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1028972	0.80[CHD][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs1152473	0.84[JPT][hapmap];0.82[ASN][1000 genomes]
rs1152474	0.81[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs1152475	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1152476	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs1152481	0.82[ASN][1000 genomes]
rs1152483	0.91[ASN][1000 genomes]
rs1152487	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1152490	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1188692	0.89[ASN][1000 genomes]
rs1427556	0.82[TSI][hapmap]
rs1979420	0.81[JPT][hapmap]
rs242393	0.81[JPT][hapmap]
rs242417	0.83[JPT][hapmap]
rs242592	0.85[JPT][hapmap]
rs242594	0.85[JPT][hapmap]
rs375156	0.85[JPT][hapmap]
rs429676	0.85[JPT][hapmap]
rs754689	0.81[JPT][hapmap]
rs754690	0.81[JPT][hapmap]

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	nsv533129	chr14:56568535-56819234	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1044886	chr14:56689682-56834648	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv542104	chr14:56689682-56834648	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv901978	chr14:56740554-56799997	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv901979	chr14:56740554-56802610	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1152491	KIAA0586	cis	cerebellum	SCAN
rs1152491	PSMA3	cis	cerebellum	SCAN

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56764400-56798200	Weak transcription	Pancreas	Pancrea
2	chr14:56764400-56808800	Weak transcription	Thymus	Thymus
3	chr14:56774400-56806400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr14:56778400-56797200	Weak transcription	Ovary	ovary
5	chr14:56783200-56797200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr14:56786800-56798200	Weak transcription	Dnd41	blood
7	chr14:56788400-56800000	Weak transcription	Primary hematopoietic stem cells	blood
8	chr14:56788400-56800200	Weak transcription	Gastric	stomach
9	chr14:56791800-56798400	Weak transcription	HSMMtube	muscle
10	chr14:56792400-56800000	Weak transcription	HSMM	muscle
11	chr14:56792400-56808400	Weak transcription	Fetal Brain Female	brain
12	chr14:56792600-56798200	Weak transcription	NH-A	brain
13	chr14:56792800-56798400	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr14:56793200-56800000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr14:56793800-56797200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr14:56793800-56797200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr14:56793800-56798000	Weak transcription	NHLF	lung
18	chr14:56793800-56798200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr14:56793800-56798600	Weak transcription	Fetal Lung	lung
20	chr14:56793800-56799800	Weak transcription	NHDF-Ad	bronchial
21	chr14:56793800-56806600	Weak transcription	Aorta	Aorta
22	chr14:56794800-56799600	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr14:56795000-56798600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr14:56795200-56798400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr14:56795200-56800000	Weak transcription	NHEK	skin
26	chr14:56795400-56800000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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