Variant report

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10099978	0.80[EUR][1000 genomes]
rs10100378	0.80[EUR][1000 genomes]
rs10100546	0.81[EUR][1000 genomes]
rs10100577	0.80[EUR][1000 genomes]
rs10111264	0.81[EUR][1000 genomes]
rs10441501	0.80[MEX][hapmap]
rs10955184	0.81[EUR][1000 genomes]
rs10955185	0.80[EUR][1000 genomes]
rs11781352	0.81[EUR][1000 genomes]
rs11985382	0.83[EUR][1000 genomes]
rs12056323	0.84[MEX][hapmap]
rs12541026	0.81[EUR][1000 genomes]
rs12542931	0.81[EUR][1000 genomes]
rs12544768	0.81[EUR][1000 genomes]
rs12547922	0.80[EUR][1000 genomes]
rs12548477	0.80[EUR][1000 genomes]
rs12550198	0.80[EUR][1000 genomes]
rs13270534	0.84[MEX][hapmap]
rs3802198	0.81[EUR][1000 genomes]
rs4130753	0.84[MEX][hapmap]
rs4332102	0.81[TSI][hapmap];0.81[EUR][1000 genomes]
rs4388428	0.84[MEX][hapmap]
rs4734407	0.83[EUR][1000 genomes]
rs4735564	0.84[MEX][hapmap]
rs6993480	1.00[ASW][hapmap];0.82[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];0.88[MKK][hapmap];0.95[TSI][hapmap];0.93[YRI][hapmap];0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7011763	0.84[MEX][hapmap]
rs7013445	0.82[JPT][hapmap];0.96[YRI][hapmap]
rs7015739	0.84[EUR][1000 genomes]
rs7815227	0.82[YRI][hapmap]
rs7845395	0.83[EUR][1000 genomes]
rs9642951	0.81[EUR][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	nsv1027362	chr8:99469281-99715845	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv539689	chr8:99469281-99715845	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4348458	NACAP1	cis	parietal	SCAN
rs4348458	OSR2	cis	cerebellum	SCAN

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99461800-99525000	Weak transcription	Psoas Muscle	Psoas
2	chr8:99479600-99504600	Weak transcription	NHEK	skin
3	chr8:99479800-99502800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:99486600-99536000	Weak transcription	Placenta	Placenta
5	chr8:99490400-99547600	Weak transcription	Ovary	ovary
6	chr8:99491400-99504800	Weak transcription	HSMMtube	muscle
7	chr8:99492600-99505600	Weak transcription	HSMM	muscle
8	chr8:99498000-99502600	Weak transcription	Primary hematopoietic stem cells	blood
9	chr8:99498600-99500200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr8:99498600-99501000	Enhancers	Fetal Lung	lung
11	chr8:99498800-99500200	Enhancers	NHDF-Ad	bronchial
12	chr8:99498800-99500400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr8:99498800-99501000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr8:99499000-99500200	Enhancers	Muscle Satellite Cultured Cells	--
15	chr8:99499200-99500200	Enhancers	Osteobl	bone
16	chr8:99499400-99500200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr8:99499400-99500400	Enhancers	NHLF	lung
18	chr8:99499600-99500400	Enhancers	Colon Smooth Muscle	Colon
19	chr8:99499600-99502800	Weak transcription	NH-A	brain
20	chr8:99499600-99504000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr8:99500000-99500200	Enhancers	A549	lung
22	chr8:99500000-99501400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

Quick Search: