Variant report

Variant	rs4735564
Chromosome Location	chr8:99525658-99525659
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:99522297..99524358-chr8:99525451..99528433,2	K562	blood:
2	chr8:99522858..99524518-chr8:99525451..99527826,2	K562	blood:
3	chr8:99524025..99526128-chr8:99527392..99529757,2	MCF-7	breast:

Extended variants
information (count: 70 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10086870	0.82[CHB][hapmap];0.83[JPT][hapmap];0.84[YRI][hapmap];0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10096329	0.82[JPT][hapmap]
rs10098835	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10099978	0.88[CEU][hapmap];0.82[CHB][hapmap];1.00[GIH][hapmap];0.81[LWK][hapmap];0.92[MEX][hapmap];0.93[TSI][hapmap];0.84[YRI][hapmap];0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10100346	0.83[CEU][hapmap];0.81[JPT][hapmap];0.84[YRI][hapmap]
rs10100378	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10100546	0.88[CEU][hapmap];0.84[YRI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10100577	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10101919	0.83[JPT][hapmap];0.84[YRI][hapmap];0.80[AFR][1000 genomes]
rs10111264	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10441501	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.91[TSI][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10955174	0.82[ASN][1000 genomes]
rs10955175	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10955176	0.83[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.82[MKK][hapmap];0.93[TSI][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10955177	0.83[JPT][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10955178	0.82[JPT][hapmap];0.80[AMR][1000 genomes]
rs10955179	0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10955180	0.82[CHB][hapmap];0.83[JPT][hapmap];0.84[YRI][hapmap];0.80[AFR][1000 genomes]
rs10955181	0.82[ASW][hapmap];0.82[CHB][hapmap];1.00[GIH][hapmap];0.83[JPT][hapmap];0.95[LWK][hapmap];0.92[MEX][hapmap];0.82[TSI][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs10955184	0.87[CEU][hapmap];0.82[CHB][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10955185	0.88[CEU][hapmap];0.82[CHB][hapmap];0.83[JPT][hapmap];0.84[YRI][hapmap];0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11781352	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11985382	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.92[MEX][hapmap];0.82[MKK][hapmap];0.93[TSI][hapmap];0.88[YRI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11994001	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12056323	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];0.99[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12541026	0.88[CEU][hapmap];0.82[CHB][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.95[LWK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12542022	0.88[CEU][hapmap];0.86[GIH][hapmap];0.91[TSI][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12542931	0.87[CEU][hapmap];0.82[CHB][hapmap];1.00[GIH][hapmap];0.83[JPT][hapmap];0.82[LWK][hapmap];0.93[TSI][hapmap];0.84[YRI][hapmap];0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12544768	0.88[CEU][hapmap];0.82[CHB][hapmap];0.83[JPT][hapmap];0.84[YRI][hapmap];0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12547922	0.88[CEU][hapmap];0.82[CHB][hapmap];1.00[GIH][hapmap];0.83[JPT][hapmap];0.81[LWK][hapmap];0.96[MEX][hapmap];0.93[TSI][hapmap];0.84[YRI][hapmap];0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12548477	0.88[CEU][hapmap];0.82[CHB][hapmap];1.00[GIH][hapmap];0.83[JPT][hapmap];0.81[LWK][hapmap];0.96[MEX][hapmap];0.93[TSI][hapmap];0.84[YRI][hapmap];0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12550198	0.88[CEU][hapmap];0.82[CHB][hapmap];0.83[JPT][hapmap];0.84[YRI][hapmap];0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12677171	0.94[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs13257475	0.82[JPT][hapmap]
rs13270534	1.00[ASW][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.85[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16892236	0.88[CEU][hapmap];0.89[TSI][hapmap];0.81[EUR][1000 genomes]
rs16896996	0.82[ASN][1000 genomes]
rs16897061	0.83[CEU][hapmap];0.86[TSI][hapmap]
rs16897076	0.82[JPT][hapmap]
rs1893884	0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.87[TSI][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2001728	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34580087	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3802198	0.82[ASW][hapmap];0.88[CEU][hapmap];0.82[CHB][hapmap];1.00[GIH][hapmap];0.83[JPT][hapmap];0.95[LWK][hapmap];0.92[MEX][hapmap];0.95[TSI][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4130753	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4301421	0.88[CEU][hapmap];0.82[CHB][hapmap];1.00[GIH][hapmap];0.83[JPT][hapmap];0.81[LWK][hapmap];0.92[MEX][hapmap];0.95[TSI][hapmap];0.84[YRI][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4332102	0.88[CEU][hapmap];0.82[CHB][hapmap];0.81[JPT][hapmap];0.95[LWK][hapmap];0.95[TSI][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4348458	0.84[MEX][hapmap]
rs4370499	0.83[CEU][hapmap];0.86[GIH][hapmap];0.89[TSI][hapmap];0.82[AMR][1000 genomes]
rs4388428	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4407850	0.82[ASN][1000 genomes]
rs4618666	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4734406	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4734407	0.87[ASW][hapmap];0.88[CEU][hapmap];0.82[CHB][hapmap];1.00[GIH][hapmap];0.83[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];0.93[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4995528	0.92[MEX][hapmap];0.91[TSI][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62532757	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6651181	0.82[CHB][hapmap];0.86[GIH][hapmap];0.82[JPT][hapmap];0.81[LWK][hapmap];0.82[TSI][hapmap];0.84[YRI][hapmap];0.80[AFR][1000 genomes]
rs6985600	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6991043	0.83[CEU][hapmap];0.81[TSI][hapmap];0.82[EUR][1000 genomes]
rs6993480	0.80[MEX][hapmap]
rs7007360	0.92[MEX][hapmap];0.91[TSI][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7011763	0.81[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7015739	0.88[CEU][hapmap];0.82[CHB][hapmap];1.00[GIH][hapmap];0.83[JPT][hapmap];0.81[LWK][hapmap];0.92[MEX][hapmap];0.95[TSI][hapmap];0.84[YRI][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7815227	0.83[JPT][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7845395	0.88[CEU][hapmap];0.82[CHB][hapmap];1.00[GIH][hapmap];0.83[JPT][hapmap];0.81[LWK][hapmap];0.92[MEX][hapmap];0.95[TSI][hapmap];0.84[YRI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7845750	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9642951	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
3	nsv891218	chr8:99507313-99906221	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv3348859	chr8:99509825-99528164	Enhancers ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4735564	OSR2	cis	cerebellum	SCAN

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99486600-99536000	Weak transcription	Placenta	Placenta
2	chr8:99490400-99547600	Weak transcription	Ovary	ovary
3	chr8:99500400-99558800	Weak transcription	Aorta	Aorta
4	chr8:99503200-99530600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr8:99503200-99536200	Weak transcription	Liver	Liver
6	chr8:99504600-99536200	Weak transcription	Fetal Lung	lung
7	chr8:99507800-99528200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr8:99515000-99550800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr8:99516000-99542800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr8:99516200-99543000	Weak transcription	GM12878-XiMat	blood
11	chr8:99516800-99542800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr8:99517800-99538200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr8:99518400-99542800	Weak transcription	Duodenum Mucosa	Duodenum
14	chr8:99518800-99551000	Weak transcription	Rectal Smooth Muscle	rectum
15	chr8:99519000-99543000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr8:99519000-99548400	Weak transcription	Fetal Stomach	stomach
17	chr8:99519200-99530800	Weak transcription	Fetal Muscle Leg	muscle
18	chr8:99519400-99530400	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr8:99519600-99536200	Weak transcription	Fetal Muscle Trunk	muscle
20	chr8:99520200-99535200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr8:99520600-99536400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr8:99523200-99529400	Weak transcription	HSMMtube	muscle
23	chr8:99523200-99530600	Weak transcription	HSMM	muscle
24	chr8:99523400-99536800	Weak transcription	NHEK	skin
25	chr8:99524000-99530000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr8:99525000-99526400	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr8:99525000-99526400	Enhancers	Fetal Thymus	thymus
28	chr8:99525000-99527800	Enhancers	Dnd41	blood
29	chr8:99525200-99526200	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr8:99525200-99526400	Enhancers	Primary T cells from cord blood	blood
31	chr8:99525400-99525800	Enhancers	Adipose Nuclei	Adipose
32	chr8:99525400-99525800	Enhancers	Lung	lung
33	chr8:99525400-99525800	Enhancers	Pancreas	Pancrea
34	chr8:99525400-99525800	Enhancers	Spleen	Spleen
35	chr8:99525400-99526000	Enhancers	Primary T cells fromperipheralblood	blood
36	chr8:99525400-99526000	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr8:99525400-99526000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr8:99525400-99526000	Enhancers	Small Intestine	intestine
39	chr8:99525400-99526200	Enhancers	Thymus	Thymus
40	chr8:99525400-99526400	Enhancers	Right Atrium	heart
41	chr8:99525600-99526000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr8:99525600-99526200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr8:99525600-99526400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr8:99525600-99528000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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