Variant report

Variant	rs28731311
Chromosome Location	chr15:49466363-49466364
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:49462876..49466490-chr15:49481891..49484473,3	K562	blood:
2	chr15:49463826..49467662-chr15:49477786..49482554,6	K562	blood:
3	chr15:49464639..49466779-chr15:49488550..49492378,3	K562	blood:
4	chr15:49463856..49466607-chr15:49479734..49481312,2	K562	blood:
5	chr15:49464598..49467246-chr15:49506406..49508580,2	K562	blood:
6	chr15:49457613..49460436-chr15:49466302..49469375,3	K562	blood:

Variant related genes	Relation type
ENSG00000243338	Chromatin interaction

Extended variants
information (count: 94 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs1048975	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11629547	0.98[ASN][1000 genomes]
rs11630937	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11632063	0.96[ASN][1000 genomes]
rs11632386	0.83[EUR][1000 genomes]
rs11633810	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11858114	0.96[ASN][1000 genomes]
rs12437486	0.85[EUR][1000 genomes]
rs12438777	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12902875	0.81[ASN][1000 genomes]
rs16962111	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1812926	0.83[ASN][1000 genomes]
rs2086256	0.93[ASN][1000 genomes]
rs2127241	0.88[ASN][1000 genomes]
rs2127242	0.88[ASN][1000 genomes]
rs2127244	0.87[ASN][1000 genomes]
rs2169932	0.91[ASN][1000 genomes]
rs2219812	0.90[ASN][1000 genomes]
rs2247003	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2247517	0.81[EUR][1000 genomes]
rs2263559	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2264508	0.85[EUR][1000 genomes]
rs2289390	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2413935	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2413937	0.96[ASN][1000 genomes]
rs2439133	0.84[EUR][1000 genomes]
rs2457228	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2457229	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2580923	0.98[ASN][1000 genomes]
rs2580926	0.88[ASN][1000 genomes]
rs2663088	0.94[ASN][1000 genomes]
rs2663089	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2663090	0.91[ASN][1000 genomes]
rs28437582	0.90[ASN][1000 genomes]
rs28479967	0.96[ASN][1000 genomes]
rs28539950	0.96[ASN][1000 genomes]
rs28653543	0.85[EUR][1000 genomes]
rs28728368	0.96[ASN][1000 genomes]
rs2899430	0.96[ASN][1000 genomes]
rs2899431	0.83[EUR][1000 genomes]
rs2919148	0.96[ASN][1000 genomes]
rs2940745	0.86[ASN][1000 genomes]
rs2940746	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3098613	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3098615	0.98[ASN][1000 genomes]
rs3098619	0.85[EUR][1000 genomes]
rs3098620	0.96[ASN][1000 genomes]
rs3098621	0.84[EUR][1000 genomes]
rs3105858	0.82[EUR][1000 genomes]
rs3105861	0.98[ASN][1000 genomes]
rs3105863	0.98[ASN][1000 genomes]
rs3105864	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3105866	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34854443	0.98[ASN][1000 genomes]
rs4393519	0.83[EUR][1000 genomes]
rs4775804	0.88[ASN][1000 genomes]
rs4775805	0.89[ASN][1000 genomes]
rs4775807	0.84[ASN][1000 genomes]
rs481466	0.85[EUR][1000 genomes]
rs489813	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs490621	0.92[ASN][1000 genomes]
rs500122	0.96[ASN][1000 genomes]
rs507054	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs520495	0.83[EUR][1000 genomes]
rs55736202	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs563533	0.98[ASN][1000 genomes]
rs568726	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs600863	0.86[ASN][1000 genomes]
rs603868	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs604765	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs609434	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs612803	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs619045	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62009779	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs626295	0.83[EUR][1000 genomes]
rs626855	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs633333	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6493356	0.83[EUR][1000 genomes]
rs6493357	0.85[EUR][1000 genomes]
rs66499252	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs671945	0.97[ASN][1000 genomes]
rs672777	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs679957	0.93[ASN][1000 genomes]
rs685172	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs694882	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7167338	0.93[ASN][1000 genomes]
rs7167555	0.88[ASN][1000 genomes]
rs7169443	0.85[EUR][1000 genomes]
rs7176455	0.89[ASN][1000 genomes]
rs754165	0.84[ASN][1000 genomes]
rs754166	0.84[ASN][1000 genomes]
rs8025952	0.84[ASN][1000 genomes]
rs8040075	0.83[ASN][1000 genomes]
rs8182081	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs28731311	COPS2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:49463000-49466600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr15:49463000-49479600	Weak transcription	Left Ventricle	heart
3	chr15:49463200-49466400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr15:49463200-49467200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr15:49463200-49467200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr15:49463200-49467600	Enhancers	Sigmoid Colon	Sigmoid Colon
7	chr15:49463200-49467600	Weak transcription	Stomach Mucosa	stomach
8	chr15:49463200-49471800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr15:49463200-49472000	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr15:49463200-49472000	Weak transcription	Colon Smooth Muscle	Colon
11	chr15:49463200-49479600	Weak transcription	Right Ventricle	heart
12	chr15:49463200-49479800	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr15:49463200-49508200	Weak transcription	Ovary	ovary
14	chr15:49463400-49467400	Weak transcription	Fetal Intestine Small	intestine
15	chr15:49463400-49469800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr15:49463400-49480000	Weak transcription	Stomach Smooth Muscle	stomach
17	chr15:49463600-49471400	Weak transcription	Fetal Muscle Leg	muscle
18	chr15:49463600-49472400	Weak transcription	HUVEC	blood vessel
19	chr15:49463600-49474200	Weak transcription	Fetal Stomach	stomach
20	chr15:49463600-49474400	Weak transcription	Primary B cells from cord blood	blood
21	chr15:49463600-49477200	Weak transcription	Primary hematopoietic stem cells	blood
22	chr15:49463600-49479400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr15:49463600-49479600	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr15:49463600-49494400	Weak transcription	Fetal Thymus	thymus
25	chr15:49463600-49517600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr15:49463600-49527800	Weak transcription	HSMM	muscle
27	chr15:49463600-49540200	Weak transcription	Colonic Mucosa	Colon
28	chr15:49463800-49467000	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr15:49463800-49467200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr15:49463800-49467200	Weak transcription	Duodenum Mucosa	Duodenum
31	chr15:49463800-49468000	Weak transcription	Fetal Brain Male	brain
32	chr15:49463800-49471600	Weak transcription	HMEC	breast
33	chr15:49463800-49472400	Weak transcription	Fetal Brain Female	brain
34	chr15:49463800-49472600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr15:49463800-49472600	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr15:49463800-49472800	Weak transcription	Fetal Lung	lung
37	chr15:49463800-49479200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr15:49463800-49479400	Weak transcription	Osteobl	bone
39	chr15:49464000-49467000	Weak transcription	A549	lung
40	chr15:49464000-49469600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr15:49464000-49474400	Weak transcription	NHDF-Ad	bronchial
42	chr15:49464000-49482800	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr15:49464000-49491600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr15:49464200-49466600	Weak transcription	Spleen	Spleen
45	chr15:49464200-49467200	Weak transcription	Gastric	stomach
46	chr15:49464200-49467200	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr15:49464200-49467200	Weak transcription	HepG2	liver
48	chr15:49464200-49470400	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr15:49464200-49470600	Weak transcription	Lung	lung
50	chr15:49464200-49470600	Weak transcription	Pancreas	Pancrea

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