Variant report

Variant	rs62184267
Chromosome Location	chr2:190630831-190630832
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:190630801-190631190	HepG2	liver:	n/a	n/a
2	POLR2A	chr2:190630590-190631960	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:190630336..190633530-chr2:190635479..190638819,5	MCF-7	breast:
2	chr2:190625930..190630327-chr2:190630673..190638393,9	K562	blood:
3	chr2:190624834..190631096-chr2:190647637..190651740,7	K562	blood:

Variant related genes	Relation type
ENSG00000273240	TF binding region
OSGEPL1	TF binding region
ENSG00000273240	Chromatin interaction
ENSG00000253559	Chromatin interaction
ENSG00000128694	Chromatin interaction
ENSG00000064933	Chromatin interaction
ENSG00000128699	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs16831821	0.81[EUR][1000 genomes]
rs16831873	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16831944	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16831972	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17271246	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2164830	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2278591	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2289405	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56137655	0.85[AFR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56324258	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5742926	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5742985	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5743047	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5743077	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62183651	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs62183652	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs62183653	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs62183656	0.85[AFR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62183658	0.85[AFR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62183659	0.85[AFR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62184265	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62184268	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62184285	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62185869	0.85[AFR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62185872	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62185874	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62185897	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6748102	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72920421	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes]

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs62184267	PMS1	Cis_1M	lymphoblastoid	RTeQTL
rs62184267	ORMDL1	Cis_1M	lymphoblastoid	RTeQTL
rs62184267	ORMDL1	cis	Muscle Skeletal	GTEx
rs62184267	ORMDL1	cis	Skin Sun Exposed Lower leg	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190627800-190642800	Weak transcription	Spleen	Spleen
2	chr2:190627800-190648200	Weak transcription	Gastric	stomach
3	chr2:190628200-190635400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr2:190628200-190635800	Weak transcription	Fetal Heart	heart
5	chr2:190628200-190635800	Weak transcription	Ovary	ovary
6	chr2:190628200-190638000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:190628200-190638000	Weak transcription	Right Ventricle	heart
8	chr2:190628200-190638400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr2:190628200-190638600	Weak transcription	Colonic Mucosa	Colon
10	chr2:190628200-190642800	Weak transcription	Lung	lung
11	chr2:190628200-190643200	Weak transcription	Esophagus	oesophagus
12	chr2:190628200-190645600	Weak transcription	Pancreas	Pancrea
13	chr2:190628200-190648000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr2:190628200-190648000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr2:190628200-190648200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:190628400-190631400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr2:190628400-190631400	Weak transcription	Fetal Muscle Trunk	muscle
18	chr2:190628400-190635400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr2:190628400-190635600	Weak transcription	Brain Germinal Matrix	brain
20	chr2:190628400-190635800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr2:190628400-190635800	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr2:190628400-190642800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr2:190628400-190648000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr2:190628600-190631000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:190628600-190631000	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr2:190628600-190631200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr2:190628600-190631200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr2:190628600-190631400	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr2:190628600-190631400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr2:190628600-190631400	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr2:190628600-190631400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr2:190628600-190631400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr2:190628600-190631400	Weak transcription	Duodenum Mucosa	Duodenum
34	chr2:190628600-190631400	Weak transcription	Stomach Smooth Muscle	stomach
35	chr2:190628600-190631600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr2:190628600-190631800	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr2:190628600-190632000	Weak transcription	Placenta	Placenta
38	chr2:190628600-190632800	Weak transcription	Brain Anterior Caudate	brain
39	chr2:190628600-190632800	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr2:190628600-190634600	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr2:190628600-190634600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr2:190628600-190634600	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr2:190628600-190634800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr2:190628600-190634800	Weak transcription	HUVEC	blood vessel
45	chr2:190628600-190635400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr2:190628600-190635400	Weak transcription	Aorta	Aorta
47	chr2:190628600-190635800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr2:190628600-190635800	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr2:190628600-190636200	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr2:190628600-190637200	Weak transcription	Fetal Kidney	kidney

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