Variant report

Variant	rs4995528
Chromosome Location	chr8:99477666-99477667
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:99177794..99180485-chr8:99476278..99478549,2	MCF-7	breast:
2	chr8:99476761..99480533-chr8:99480952..99484066,4	MCF-7	breast:
3	chr8:99432219..99434824-chr8:99476981..99478885,2	MCF-7	breast:
4	chr8:99343429..99346182-chr8:99476403..99480248,3	MCF-7	breast:

Extended variants
information (count: 64 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10086870	0.91[CHB][hapmap];0.87[JPT][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10098835	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10099978	0.81[CEU][hapmap];0.91[CHB][hapmap];0.91[CHD][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10100346	0.96[CEU][hapmap];0.85[CHB][hapmap];0.86[JPT][hapmap]
rs10100378	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10100546	0.81[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10100577	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10101919	0.86[CHB][hapmap];0.87[JPT][hapmap];0.86[ASN][1000 genomes]
rs10108828	0.81[JPT][hapmap]
rs10111264	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10441501	1.00[ASW][hapmap];1.00[CEU][hapmap];0.97[GIH][hapmap];1.00[LWK][hapmap];0.88[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10955174	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10955175	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10955176	0.86[JPT][hapmap];0.83[MKK][hapmap];0.93[TSI][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10955177	0.96[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10955178	0.96[CEU][hapmap];0.83[YRI][hapmap];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10955179	0.88[CEU][hapmap];0.96[YRI][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10955180	0.91[CHB][hapmap];0.87[JPT][hapmap];0.86[ASN][1000 genomes]
rs10955181	0.91[CHB][hapmap];0.98[CHD][hapmap];0.87[JPT][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.86[ASN][1000 genomes]
rs10955184	0.83[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10955185	0.81[CEU][hapmap];0.91[CHB][hapmap];0.87[JPT][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11781352	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11985382	0.81[CEU][hapmap];0.83[MEX][hapmap];0.83[MKK][hapmap];0.93[TSI][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12056323	0.92[MEX][hapmap];0.91[TSI][hapmap];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12541026	0.81[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12542022	0.81[CEU][hapmap];0.88[MEX][hapmap];0.91[TSI][hapmap];0.89[AMR][1000 genomes]
rs12542931	0.90[CHB][hapmap];0.95[CHD][hapmap];0.87[JPT][hapmap];0.93[TSI][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12544768	0.81[CEU][hapmap];0.91[CHB][hapmap];0.87[JPT][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12547922	0.81[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.87[JPT][hapmap];0.96[MEX][hapmap];0.93[TSI][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12548477	0.81[CEU][hapmap];0.91[CHB][hapmap];0.98[CHD][hapmap];0.87[JPT][hapmap];0.96[MEX][hapmap];0.93[TSI][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12549563	0.81[AMR][1000 genomes]
rs12550198	0.81[CEU][hapmap];0.91[CHB][hapmap];0.87[JPT][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13268777	0.81[ASN][1000 genomes]
rs13270534	0.92[MEX][hapmap]
rs16892236	0.81[CEU][hapmap];0.83[JPT][hapmap];0.89[TSI][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs16897061	0.87[TSI][hapmap]
rs1893884	0.83[ASW][hapmap];0.88[GIH][hapmap];1.00[LWK][hapmap];0.87[MEX][hapmap];0.95[MKK][hapmap];0.87[TSI][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs34580087	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3802198	0.81[CEU][hapmap];0.91[CHB][hapmap];0.98[CHD][hapmap];0.87[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4130753	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.98[LWK][hapmap];0.92[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4236853	0.81[AMR][1000 genomes]
rs4301421	0.81[CEU][hapmap];0.91[CHB][hapmap];0.98[CHD][hapmap];0.87[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4332102	0.81[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.98[TSI][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4370499	0.84[MEX][hapmap];0.89[TSI][hapmap];0.88[AMR][1000 genomes]
rs4388428	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.92[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4407850	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4618666	0.82[AMR][1000 genomes]
rs4734406	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4734407	0.81[CEU][hapmap];0.91[CHB][hapmap];0.98[CHD][hapmap];0.87[JPT][hapmap];0.96[MEX][hapmap];0.93[TSI][hapmap];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4735564	0.92[MEX][hapmap];0.91[TSI][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62532757	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6651181	0.90[CHB][hapmap];0.98[CHD][hapmap];0.86[JPT][hapmap];0.83[TSI][hapmap];0.85[ASN][1000 genomes]
rs6991043	0.86[CHD][hapmap];0.82[JPT][hapmap]
rs6993480	0.83[YRI][hapmap];0.82[EUR][1000 genomes]
rs7007360	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7011763	0.89[ASW][hapmap];0.88[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.92[MEX][hapmap];0.84[MKK][hapmap];0.95[TSI][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7015739	0.81[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];0.87[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7815227	1.00[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7845395	0.81[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];0.87[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7845750	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9642951	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831406	chr8:99290745-99482076	Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	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
3	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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4995528	OSR2	cis	cerebellum	SCAN

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99461800-99525000	Weak transcription	Psoas Muscle	Psoas
2	chr8:99465000-99478600	Weak transcription	HUVEC	blood vessel
3	chr8:99465200-99478800	Weak transcription	A549	lung
4	chr8:99467000-99478600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:99467200-99478600	Weak transcription	NH-A	brain
6	chr8:99467200-99478600	Weak transcription	NHEK	skin
7	chr8:99472000-99479200	Weak transcription	HSMMtube	muscle
8	chr8:99472200-99478600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr8:99472400-99479000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr8:99472400-99479000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr8:99474000-99479200	Weak transcription	Fetal Lung	lung
12	chr8:99474200-99478600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr8:99474600-99478800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr8:99475200-99481000	Enhancers	NHDF-Ad	bronchial
15	chr8:99475800-99478000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr8:99476600-99478600	Weak transcription	HSMM	muscle
17	chr8:99476600-99480000	Enhancers	Osteobl	bone
18	chr8:99477000-99478800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr8:99477000-99482400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr8:99477200-99478600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr8:99477200-99478600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr8:99477200-99478600	Weak transcription	NHLF	lung
23	chr8:99477400-99479200	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr8:99477400-99479200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr8:99477400-99485600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr8:99477400-99491400	Weak transcription	Fetal Muscle Trunk	muscle
27	chr8:99477600-99478000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr8:99477600-99478000	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr8:99477600-99478800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr8:99477600-99478800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr8:99477600-99482000	Weak transcription	Fetal Heart	heart
32	chr8:99477600-99482600	Weak transcription	Ovary	ovary

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