Variant report

Variant	rs2766005
Chromosome Location	chr1:95428414-95428415
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:95416169..95418622-chr1:95427478..95429036,2	K562	blood:
2	chr1:95428163..95430092-chr1:95432273..95433856,2	K562	blood:
3	chr1:95417122..95419452-chr1:95427536..95429071,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10735790	0.82[CHB][hapmap]
rs10874902	0.84[CHB][hapmap];0.90[JPT][hapmap]
rs11585462	0.83[CHB][hapmap];0.90[JPT][hapmap]
rs1246349	0.83[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs1265169	0.82[CHB][hapmap]
rs12741128	0.84[CHB][hapmap]
rs2254031	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2391388	0.92[CHB][hapmap];0.90[JPT][hapmap]
rs2766010	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2766011	0.82[ASN][1000 genomes]
rs2797616	1.00[ASN][1000 genomes]
rs2797622	0.82[ASN][1000 genomes]
rs2797623	0.85[ASN][1000 genomes]
rs4339907	0.83[CHB][hapmap];0.90[JPT][hapmap]
rs4630159	0.84[CHB][hapmap];0.90[JPT][hapmap]
rs4847220	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs4949965	0.84[CHB][hapmap];0.90[JPT][hapmap]
rs4950058	0.84[CHB][hapmap];0.90[JPT][hapmap]
rs6675668	0.87[ASW][hapmap];0.84[CHB][hapmap];0.90[JPT][hapmap]
rs6687388	0.84[CHB][hapmap];0.90[JPT][hapmap]
rs6687450	1.00[CHB][hapmap];0.80[JPT][hapmap]
rs6698046	1.00[CHB][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs7533303	0.87[ASW][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.83[YRI][hapmap]
rs7537374	0.92[CHB][hapmap];0.90[JPT][hapmap]
rs7547662	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap]
rs9437689	0.91[CHB][hapmap];0.90[JPT][hapmap]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2766005	POLRMT	trans	cerebellum	SCAN
rs2766005	PTBP2	cis	parietal	SCAN
rs2766005	TMED5	cis	parietal	SCAN

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95421600-95429200	Weak transcription	Fetal Muscle Trunk	muscle
2	chr1:95421600-95429600	Weak transcription	Spleen	Spleen
3	chr1:95422000-95428600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:95422000-95450800	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr1:95422800-95428600	Weak transcription	Esophagus	oesophagus
6	chr1:95427000-95429200	Enhancers	Fetal Intestine Small	intestine
7	chr1:95427600-95428800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:95427600-95429000	Active TSS	Rectal Mucosa Donor 29	rectum
9	chr1:95427600-95429200	Enhancers	Fetal Intestine Large	intestine
10	chr1:95427800-95429000	Flanking Active TSS	Primary B cells from cord blood	blood
11	chr1:95428000-95428600	Active TSS	Colonic Mucosa	Colon
12	chr1:95428000-95428800	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr1:95428000-95429000	Flanking Active TSS	Primary hematopoietic stem cells	blood
14	chr1:95428000-95429000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
15	chr1:95428000-95429000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
16	chr1:95428000-95429000	Flanking Active TSS	Adipose Nuclei	Adipose
17	chr1:95428000-95429000	Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr1:95428000-95429000	Flanking Active TSS	HUVEC	blood vessel
19	chr1:95428000-95429200	Flanking Active TSS	Primary T cells from cord blood	blood
20	chr1:95428000-95429200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr1:95428000-95429200	Active TSS	Right Atrium	heart
22	chr1:95428200-95428600	Active TSS	Primary T cells fromperipheralblood	blood
23	chr1:95428200-95428600	Active TSS	Aorta	Aorta
24	chr1:95428200-95428600	Active TSS	Liver	Liver
25	chr1:95428200-95428800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr1:95428200-95428800	Active TSS	Primary T helper cells PMA-I stimulated	--
27	chr1:95428200-95428800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
28	chr1:95428200-95428800	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
29	chr1:95428200-95428800	Active TSS	Primary T killer memory cells from peripheral blood	blood
30	chr1:95428200-95428800	Active TSS	Colon Smooth Muscle	Colon
31	chr1:95428200-95428800	Enhancers	Fetal Heart	heart
32	chr1:95428200-95428800	Flanking Active TSS	Placenta	Placenta
33	chr1:95428200-95428800	Active TSS	Right Ventricle	heart
34	chr1:95428200-95428800	Active TSS	Sigmoid Colon	Sigmoid Colon
35	chr1:95428200-95428800	Active TSS	Skeletal Muscle Male	skeletal muscle
36	chr1:95428200-95428800	Active TSS	Small Intestine	intestine
37	chr1:95428200-95428800	Active TSS	Stomach Mucosa	stomach
38	chr1:95428200-95428800	Flanking Active TSS	A549	lung
39	chr1:95428200-95428800	Active TSS	HSMM	muscle
40	chr1:95428200-95428800	Flanking Active TSS	HSMMtube	muscle
41	chr1:95428200-95428800	Active TSS	NHLF	lung
42	chr1:95428200-95429000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
43	chr1:95428200-95429000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
44	chr1:95428200-95429000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr1:95428200-95429000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
46	chr1:95428200-95429000	Active TSS	Brain Angular Gyrus	brain
47	chr1:95428200-95429000	Active TSS	Brain Anterior Caudate	brain
48	chr1:95428200-95429000	Active TSS	Brain Cingulate Gyrus	brain
49	chr1:95428200-95429000	Active TSS	Brain Hippocampus Middle	brain
50	chr1:95428200-95429000	Active TSS	Brain Inferior Temporal Lobe	brain

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