Variant report

Variant	rs2278591
Chromosome Location	chr2:190620504-190620505
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:190619706..190621333-chr2:190623417..190625217,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1233255	0.81[CEU][hapmap]
rs16831821	0.80[EUR][1000 genomes]
rs16831873	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16831944	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16831972	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17271246	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2164830	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2289405	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56137655	0.93[AFR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56324258	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5742926	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs5742985	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs5743047	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5743072	0.86[CEU][hapmap];1.00[JPT][hapmap]
rs5743077	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62183651	0.93[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs62183652	0.93[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs62183653	0.93[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs62183656	0.93[AFR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62183658	0.93[AFR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62183659	0.93[AFR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62184265	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62184267	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62184268	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62184285	0.87[ASN][1000 genomes]
rs62185869	0.93[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs62185872	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62185874	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62185897	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6748102	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6753164	0.87[CEU][hapmap];1.00[JPT][hapmap]
rs72920421	0.93[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs7568449	0.86[CEU][hapmap]

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs2278591	LOC51240	cis	multi-tissue	Pritchard
rs2278591	ORMDL1	cis	lesional skin	skin_eQTL
rs2278591	ORMDL1	cis	Skin Sun Exposed Lower leg	GTEx
rs2278591	ORMDL1	cis	multi-tissue	Pritchard
rs2278591	ORMDL1	Cis_1M	lymphoblastoid	RTeQTL
rs2278591	ORMDL1	cis	normal skin	skin_eQTL
rs2278591	PMS1	Cis_1M	lymphoblastoid	RTeQTL
rs2278591	ORMDL1	cis	Muscle Skeletal	GTEx

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190550800-190626800	Weak transcription	Right Ventricle	heart
2	chr2:190576800-190627000	Weak transcription	Pancreas	Pancrea
3	chr2:190577000-190622600	Weak transcription	Aorta	Aorta
4	chr2:190583000-190626800	Weak transcription	Psoas Muscle	Psoas
5	chr2:190589400-190626600	Weak transcription	HUVEC	blood vessel
6	chr2:190594800-190627000	Weak transcription	Gastric	stomach
7	chr2:190597800-190626600	Weak transcription	Fetal Heart	heart
8	chr2:190599000-190626800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr2:190601400-190626800	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr2:190602400-190626400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr2:190603800-190626800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr2:190605000-190626800	Weak transcription	Fetal Brain Male	brain
13	chr2:190607000-190626800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr2:190607000-190626800	Weak transcription	NH-A	brain
15	chr2:190607400-190626800	Weak transcription	HSMMtube	muscle
16	chr2:190607800-190621000	Strong transcription	Liver	Liver
17	chr2:190607800-190622400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr2:190608600-190626200	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr2:190609600-190626600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr2:190609600-190627000	Weak transcription	Small Intestine	intestine
21	chr2:190609800-190626200	Weak transcription	HMEC	breast
22	chr2:190610000-190626800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr2:190610200-190627000	Weak transcription	Lung	lung
24	chr2:190610200-190627000	Weak transcription	Spleen	Spleen
25	chr2:190610400-190626200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr2:190610400-190626800	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr2:190610400-190626800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr2:190610400-190627000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr2:190611200-190625800	Weak transcription	NHEK	skin
30	chr2:190611400-190626600	Weak transcription	NHLF	lung
31	chr2:190611800-190626000	Weak transcription	HepG2	liver
32	chr2:190613200-190622600	Weak transcription	Fetal Stomach	stomach
33	chr2:190613200-190626200	Weak transcription	A549	lung
34	chr2:190613200-190626800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr2:190613200-190626800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr2:190613200-190626800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr2:190613200-190626800	Weak transcription	Brain Substantia Nigra	brain
38	chr2:190613200-190626800	Weak transcription	Colonic Mucosa	Colon
39	chr2:190613200-190627000	Weak transcription	Left Ventricle	heart
40	chr2:190613400-190621600	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr2:190613400-190622400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr2:190613600-190626600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr2:190613600-190626800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr2:190613600-190626800	Weak transcription	Rectal Smooth Muscle	rectum
45	chr2:190613800-190621000	Weak transcription	Fetal Intestine Large	intestine
46	chr2:190613800-190626000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr2:190614800-190626800	Weak transcription	Brain Germinal Matrix	brain
48	chr2:190615000-190626400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr2:190615000-190626800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr2:190615800-190620800	Strong transcription	Primary B cells from cord blood	blood

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