Variant report

Variant	rs7167338
Chromosome Location	chr15:49454018-49454019
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:49448027..49449867-chr15:49452130..49454231,2	K562	blood:
2	chr15:49452388..49455562-chr15:49460596..49462928,4	K562	blood:

Variant related genes	Relation type
ENSG00000259467	Chromatin interaction
ENSG00000264210	Chromatin interaction
ENSG00000156958	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs1048975	0.83[ASN][1000 genomes]
rs11629547	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11632063	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11858114	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1812926	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2086256	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2127241	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2127242	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2127244	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2169932	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2219812	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2263559	0.91[ASN][1000 genomes]
rs2413935	0.88[ASN][1000 genomes]
rs2413937	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2457228	0.93[ASN][1000 genomes]
rs2580923	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2580926	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2663088	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2663089	0.86[ASN][1000 genomes]
rs2663090	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28437582	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28479967	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28539950	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28728368	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28731311	0.93[ASN][1000 genomes]
rs2899430	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2919148	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2940745	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2940746	0.91[ASN][1000 genomes]
rs3098615	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3098620	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3105861	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3105863	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34854443	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4775804	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4775805	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4775807	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs490621	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs491277	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs500122	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55736202	0.93[ASN][1000 genomes]
rs563533	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs568726	0.93[ASN][1000 genomes]
rs600863	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs603868	0.88[ASN][1000 genomes]
rs626855	0.93[ASN][1000 genomes]
rs671945	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs679957	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs685172	0.93[ASN][1000 genomes]
rs7167555	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7176455	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs754165	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs754166	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8025952	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8040075	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7167338	COPS2	Cis_1M	lymphoblastoid	RTeQTL
rs7167338	GALK2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:49448800-49456200	Weak transcription	Gastric	stomach
2	chr15:49448800-49461400	Weak transcription	Small Intestine	intestine
3	chr15:49448800-49461800	Weak transcription	Colonic Mucosa	Colon
4	chr15:49448800-49461800	Weak transcription	Stomach Mucosa	stomach
5	chr15:49448800-49462000	Weak transcription	Placenta	Placenta
6	chr15:49448800-49462000	Weak transcription	Left Ventricle	heart
7	chr15:49448800-49462000	Weak transcription	Lung	lung
8	chr15:49448800-49462200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr15:49448800-49462200	Weak transcription	Ovary	ovary
10	chr15:49448800-49462200	Weak transcription	Pancreas	Pancrea
11	chr15:49448800-49462200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr15:49448800-49462400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr15:49448800-49462400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr15:49448800-49462400	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr15:49448800-49462400	Weak transcription	Spleen	Spleen
16	chr15:49449000-49454200	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr15:49449000-49454400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr15:49449000-49454800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr15:49449000-49461600	Weak transcription	Fetal Intestine Small	intestine
20	chr15:49449000-49461800	Weak transcription	Brain Germinal Matrix	brain
21	chr15:49449000-49462000	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr15:49449000-49462000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr15:49449000-49462000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr15:49449000-49462000	Weak transcription	Fetal Muscle Trunk	muscle
25	chr15:49449000-49462000	Weak transcription	Fetal Muscle Leg	muscle
26	chr15:49449000-49462000	Weak transcription	Stomach Smooth Muscle	stomach
27	chr15:49449000-49462200	Weak transcription	Thymus	Thymus
28	chr15:49449200-49454200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr15:49449200-49461600	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr15:49449200-49461800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr15:49449200-49462000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr15:49449200-49462000	Weak transcription	Fetal Stomach	stomach
33	chr15:49449200-49462000	Weak transcription	Fetal Thymus	thymus
34	chr15:49449200-49462000	Weak transcription	NH-A	brain
35	chr15:49449400-49454400	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr15:49449400-49454600	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr15:49449400-49458000	Weak transcription	Brain Substantia Nigra	brain
38	chr15:49449400-49461600	Weak transcription	Brain Angular Gyrus	brain
39	chr15:49449400-49461800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr15:49449400-49461800	Weak transcription	Fetal Intestine Large	intestine
41	chr15:49449400-49461800	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr15:49449400-49461800	Weak transcription	Rectal Smooth Muscle	rectum
43	chr15:49449400-49462000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr15:49449400-49462000	Weak transcription	Fetal Brain Female	brain
45	chr15:49449400-49462000	Weak transcription	Fetal Lung	lung
46	chr15:49449400-49462000	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr15:49449600-49454200	Weak transcription	Adipose Nuclei	Adipose
48	chr15:49449600-49454600	Weak transcription	Brain Anterior Caudate	brain
49	chr15:49449600-49461200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr15:49449600-49461600	Weak transcription	NHDF-Ad	bronchial

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