Variant report

Variant	rs8039512
Chromosome Location	chr15:49595296-49595297
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:49593546..49596024-chr15:49597916..49600433,2	K562	blood:

Extended variants
information (count: 116 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:114)

rs_ID	r²[population]
rs10467992	0.82[CHB][hapmap]
rs10467993	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1048975	0.84[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap]
rs10851476	0.96[CEU][hapmap];0.84[CHB][hapmap]
rs11070687	0.96[CEU][hapmap];0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11630937	0.83[ASN][1000 genomes]
rs11632386	0.94[ASN][1000 genomes]
rs11633810	0.88[CEU][hapmap];0.89[CHB][hapmap];0.94[JPT][hapmap];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11852825	0.98[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs11854667	0.96[CEU][hapmap];0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11858114	0.85[CHB][hapmap];0.94[JPT][hapmap]
rs12437486	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12438777	0.92[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12899761	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12902497	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12903238	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12903904	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12904171	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12909779	0.96[CEU][hapmap];0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12916840	0.96[CEU][hapmap];0.81[CHB][hapmap];0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1594188	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16962111	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1816293	0.93[CEU][hapmap];0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1864299	0.96[CEU][hapmap];0.89[CHB][hapmap];0.89[JPT][hapmap];0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1904313	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1981995	0.96[CEU][hapmap];0.89[CHB][hapmap];0.94[JPT][hapmap];0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2043036	0.96[CEU][hapmap];0.84[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs2086256	0.85[CHB][hapmap];0.94[JPT][hapmap]
rs2099141	0.96[CEU][hapmap];0.91[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2127241	0.86[CHB][hapmap];0.94[JPT][hapmap]
rs2127242	0.85[CHB][hapmap];0.94[JPT][hapmap]
rs2163095	0.96[CEU][hapmap];0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2163096	0.92[CEU][hapmap];0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2219812	0.85[CHB][hapmap];0.94[JPT][hapmap]
rs2247003	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2247517	0.89[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2264508	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2289390	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2413935	0.84[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap]
rs2413941	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2439133	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2457228	0.84[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap]
rs2457229	0.85[AFR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2580926	0.90[CHB][hapmap];0.95[JPT][hapmap]
rs2663088	0.86[CHB][hapmap];0.94[JPT][hapmap]
rs2663089	0.84[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap]
rs28374976	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28653543	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28687437	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2899430	0.85[CHB][hapmap];0.94[JPT][hapmap]
rs2899431	0.92[CEU][hapmap];0.89[CHB][hapmap];0.94[JPT][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3098613	0.92[CEU][hapmap];0.89[CHB][hapmap];0.94[JPT][hapmap];0.85[AFR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3098619	0.92[CEU][hapmap];0.89[CHB][hapmap];0.94[JPT][hapmap];0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3098620	0.85[CHB][hapmap];0.94[JPT][hapmap]
rs3098621	0.92[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3105858	0.92[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3105861	0.90[CHB][hapmap];0.95[JPT][hapmap]
rs3105864	0.92[CEU][hapmap];0.89[CHB][hapmap];0.94[JPT][hapmap];0.84[AFR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3105866	0.92[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3907313	0.96[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4393519	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4421927	0.96[CEU][hapmap];0.81[CHB][hapmap];0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4508377	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4774537	0.92[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4775810	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs481466	0.92[CEU][hapmap];0.89[CHB][hapmap];0.94[JPT][hapmap];0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs489813	0.94[CHB][hapmap];0.82[JPT][hapmap];0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs507054	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs520495	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs568726	0.85[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap]
rs600863	0.86[CHB][hapmap];0.89[JPT][hapmap]
rs604765	0.92[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs609434	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs612803	0.92[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs619045	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs62009779	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs626295	0.92[CEU][hapmap];0.89[CHB][hapmap];0.94[JPT][hapmap];0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs626855	0.85[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap]
rs633333	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs647118	0.86[CHB][hapmap];0.94[JPT][hapmap]
rs6493356	0.92[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6493357	0.92[CEU][hapmap];0.89[CHB][hapmap];0.94[JPT][hapmap];0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6493359	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6493362	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs66499252	0.89[AFR][1000 genomes];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs672777	0.89[AFR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs679957	0.86[CHB][hapmap];0.94[JPT][hapmap]
rs685172	0.85[CEU][hapmap];0.84[CHB][hapmap];0.95[JPT][hapmap]
rs694882	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7162360	0.96[CEU][hapmap];0.97[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7166847	0.92[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7168201	0.95[CEU][hapmap];0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7169443	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7173761	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7179127	0.96[CEU][hapmap];0.89[CHB][hapmap];0.89[JPT][hapmap];0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7179237	0.96[CEU][hapmap];0.81[CHB][hapmap];0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs754165	0.86[CHB][hapmap];0.94[JPT][hapmap]
rs754166	0.90[CHB][hapmap];0.94[JPT][hapmap]
rs8024102	0.96[CEU][hapmap];0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8025237	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8025952	0.86[CHB][hapmap];0.89[JPT][hapmap]
rs8031480	0.96[CEU][hapmap];0.98[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs8034112	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs8034956	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8035266	0.94[EUR][1000 genomes]
rs8039920	1.00[CEU][hapmap];0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8040075	0.86[CHB][hapmap];0.94[JPT][hapmap]
rs8040134	0.96[CEU][hapmap];0.98[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs8041461	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8182081	0.87[AFR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs919447	0.96[CEU][hapmap];0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9806208	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9806776	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs981612	0.82[CEU][hapmap];0.83[CHB][hapmap];0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[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	nsv1039220	chr15:49492509-49644261	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1039368	chr15:49566094-49764066	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8039512	COPS2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:49520400-49595600	Weak transcription	Right Ventricle	heart
2	chr15:49541600-49595800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr15:49557200-49611800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr15:49557800-49607600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr15:49558000-49624400	Weak transcription	Esophagus	oesophagus
6	chr15:49558200-49611800	Weak transcription	Colonic Mucosa	Colon
7	chr15:49561000-49600800	Weak transcription	Pancreas	Pancrea
8	chr15:49562000-49595800	Weak transcription	HepG2	liver
9	chr15:49562200-49626000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr15:49563600-49611000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr15:49565400-49602000	Weak transcription	Fetal Heart	heart
12	chr15:49566200-49611800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr15:49566400-49595600	Weak transcription	Gastric	stomach
14	chr15:49566600-49623200	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr15:49572000-49595800	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr15:49572800-49600800	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr15:49573600-49613000	Weak transcription	Brain Germinal Matrix	brain
18	chr15:49573800-49622200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr15:49576600-49605600	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr15:49576800-49611800	Weak transcription	Thymus	Thymus
21	chr15:49577000-49605800	Weak transcription	A549	lung
22	chr15:49577200-49607000	Weak transcription	Rectal Smooth Muscle	rectum
23	chr15:49577600-49605400	Weak transcription	Fetal Intestine Small	intestine
24	chr15:49577800-49596600	Weak transcription	HSMM	muscle
25	chr15:49577800-49611600	Weak transcription	Fetal Brain Female	brain
26	chr15:49578000-49596400	Weak transcription	Placenta	Placenta
27	chr15:49578200-49595800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr15:49578200-49604400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr15:49578200-49611000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr15:49578400-49605400	Weak transcription	Colon Smooth Muscle	Colon
31	chr15:49578400-49611200	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr15:49579400-49612000	Weak transcription	HUVEC	blood vessel
33	chr15:49580600-49615600	Weak transcription	Fetal Brain Male	brain
34	chr15:49580800-49605600	Weak transcription	NHEK	skin
35	chr15:49581200-49607400	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr15:49581400-49607600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr15:49582200-49611400	Weak transcription	Brain Cingulate Gyrus	brain
38	chr15:49582600-49628200	Weak transcription	Spleen	Spleen
39	chr15:49582800-49595600	Weak transcription	Aorta	Aorta
40	chr15:49583000-49606800	Weak transcription	Fetal Stomach	stomach
41	chr15:49583200-49595600	Weak transcription	Ovary	ovary
42	chr15:49583200-49600800	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr15:49583200-49611400	Weak transcription	Small Intestine	intestine
44	chr15:49583400-49600800	Weak transcription	HSMMtube	muscle
45	chr15:49583800-49595600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr15:49584000-49605800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr15:49584000-49607400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr15:49584000-49607400	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr15:49584800-49600600	Weak transcription	Hela-S3	cervix
50	chr15:49585400-49596600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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