Variant report

Variant	rs619045
Chromosome Location	chr15:49436098-49436099
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	chr15:49435550..49437552-chr15:49461506..49463095,2	MCF-7	breast:
2	chr15:49427500..49432131-chr15:49433640..49437406,4	K562	blood:

Variant related genes	Relation type
ENSG00000200120	Chromatin interaction
ENSG00000156958	Chromatin interaction
ENSG00000166200	Chromatin interaction

Extended variants
information (count: 84 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs10467993	0.81[AMR][1000 genomes]
rs1048975	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11070683	0.81[ASN][1000 genomes]
rs11070687	0.84[AMR][1000 genomes]
rs11630937	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11632386	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11633810	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11854667	0.80[AMR][1000 genomes]
rs12148348	0.81[ASN][1000 genomes]
rs12437486	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12438777	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12899761	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12909779	0.83[AMR][1000 genomes]
rs16962057	0.81[ASN][1000 genomes]
rs16962111	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1816293	0.80[AMR][1000 genomes]
rs1864299	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1981995	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2163095	0.83[AMR][1000 genomes]
rs2163096	0.83[AMR][1000 genomes]
rs2247003	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2247517	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2263559	0.81[EUR][1000 genomes]
rs2264508	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2289390	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2413935	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2413941	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2439133	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2457228	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2457229	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2663089	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28566064	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28653543	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28731311	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2899431	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2940746	0.81[EUR][1000 genomes]
rs3098613	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3098619	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3098621	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3105858	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3105864	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3105866	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3907313	0.85[AMR][1000 genomes]
rs4393519	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4421927	0.83[AMR][1000 genomes]
rs4508377	0.83[AMR][1000 genomes]
rs4774537	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs481466	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs489813	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs507054	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs520495	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs568726	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs58851861	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs603868	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs604765	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs609434	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs612803	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62009779	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs626295	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs626855	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs633333	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6493356	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6493357	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6493359	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6493362	0.84[AMR][1000 genomes]
rs66499252	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs672777	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs685172	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs694882	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7162602	0.82[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs7166847	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7168201	0.87[AMR][1000 genomes]
rs7169443	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7173761	0.80[AMR][1000 genomes]
rs7179127	0.86[AMR][1000 genomes]
rs7179237	0.83[AMR][1000 genomes]
rs8024102	0.84[AMR][1000 genomes]
rs8034956	0.80[AMR][1000 genomes]
rs8039512	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs8039920	0.83[AMR][1000 genomes]
rs8041461	0.84[AMR][1000 genomes]
rs8182081	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs919447	0.84[AMR][1000 genomes]
rs9806208	0.83[AMR][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs619045	COPS2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:49403400-49440200	Weak transcription	Pancreas	Pancrea
2	chr15:49405600-49441800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr15:49413600-49447000	Weak transcription	Stomach Mucosa	stomach
4	chr15:49415600-49437600	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr15:49415800-49437400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr15:49416200-49437400	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr15:49416800-49436800	Strong transcription	Liver	Liver
8	chr15:49416800-49437200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr15:49417000-49437200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr15:49417200-49436600	Strong transcription	Primary T helper cells PMA-I stimulated	--
11	chr15:49417200-49437200	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr15:49417200-49437200	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr15:49417200-49437400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr15:49417200-49437400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr15:49417400-49437200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr15:49417600-49437200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr15:49417600-49437200	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr15:49417800-49437200	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr15:49418600-49437600	Strong transcription	Primary B cells from peripheral blood	blood
20	chr15:49418800-49436800	Strong transcription	Adipose Nuclei	Adipose
21	chr15:49418800-49437000	Strong transcription	Dnd41	blood
22	chr15:49419000-49437000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr15:49419000-49445800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr15:49419200-49437000	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr15:49419400-49436400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr15:49419400-49437000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
27	chr15:49419600-49437000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr15:49420200-49447000	Weak transcription	Spleen	Spleen
29	chr15:49420400-49447000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr15:49423400-49437200	Strong transcription	Fetal Intestine Large	intestine
31	chr15:49424800-49436400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr15:49425000-49436200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr15:49425000-49437000	Strong transcription	Primary T cells from cord blood	blood
34	chr15:49425200-49436800	Strong transcription	Duodenum Smooth Muscle	Duodenum
35	chr15:49425600-49437200	Strong transcription	Primary B cells from cord blood	blood
36	chr15:49427800-49437400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr15:49428400-49437200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr15:49428400-49437400	Strong transcription	Placenta	Placenta
39	chr15:49428400-49437600	Strong transcription	GM12878-XiMat	blood
40	chr15:49428800-49437400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr15:49429000-49437000	Strong transcription	NHEK	skin
42	chr15:49429000-49437800	Strong transcription	Hela-S3	cervix
43	chr15:49429200-49437000	Strong transcription	HMEC	breast
44	chr15:49429200-49437600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr15:49429200-49447000	Weak transcription	Esophagus	oesophagus
46	chr15:49429600-49437200	Strong transcription	K562	blood
47	chr15:49430000-49437200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr15:49430600-49436800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr15:49431000-49436800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr15:49431000-49438600	Weak transcription	Pancreatic Islets	Pancreatic Islet

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