Variant report

Variant	rs62185897
Chromosome Location	chr2:190586005-190586006
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	chr2:190571340..190573734-chr2:190584560..190587227,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs16831821	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16831873	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16831944	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16831972	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17271246	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2164830	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2278591	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2289405	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56137655	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56324258	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs5742926	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs5742985	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs5743047	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs5743077	0.85[EUR][1000 genomes]
rs62183651	0.93[AFR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62183652	0.93[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs62183653	0.93[AFR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62183656	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62183657	0.81[EUR][1000 genomes]
rs62183658	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62183659	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62184265	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62184267	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62184268	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62185869	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62185872	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62185874	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72920421	0.93[AFR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs62185897	ORMDL1	cis	Skin Sun Exposed Lower leg	GTEx
rs62185897	PMS1	Cis_1M	lymphoblastoid	RTeQTL
rs62185897	ORMDL1	cis	Muscle Skeletal	GTEx
rs62185897	ORMDL1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190540800-190592600	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr2:190540800-190611800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr2:190540800-190618400	Weak transcription	Brain Cingulate Gyrus	brain
4	chr2:190541600-190617000	Weak transcription	Colon Smooth Muscle	Colon
5	chr2:190550800-190591400	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr2:190550800-190617000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:190550800-190626800	Weak transcription	Right Ventricle	heart
8	chr2:190551200-190603400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr2:190551200-190617000	Weak transcription	HSMM	muscle
10	chr2:190555600-190593000	Weak transcription	Fetal Lung	lung
11	chr2:190557400-190617000	Weak transcription	Brain Angular Gyrus	brain
12	chr2:190563400-190607800	Weak transcription	Primary T cells from cord blood	blood
13	chr2:190563600-190593200	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr2:190563600-190608400	Weak transcription	Brain Anterior Caudate	brain
15	chr2:190563600-190611800	Weak transcription	Brain Substantia Nigra	brain
16	chr2:190563600-190612600	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr2:190564000-190593200	Weak transcription	Liver	Liver
18	chr2:190568200-190594200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr2:190568200-190611600	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr2:190571600-190606800	Weak transcription	Primary B cells from cord blood	blood
21	chr2:190571600-190607800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr2:190571600-190608400	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr2:190571600-190612400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr2:190571800-190608600	Weak transcription	Duodenum Mucosa	Duodenum
25	chr2:190572000-190608400	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr2:190573000-190606600	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr2:190573000-190611000	Weak transcription	Stomach Smooth Muscle	stomach
28	chr2:190575000-190615800	Weak transcription	Fetal Kidney	kidney
29	chr2:190576800-190592600	Weak transcription	Adipose Nuclei	Adipose
30	chr2:190576800-190593000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr2:190576800-190608200	Weak transcription	Primary hematopoietic stem cells	blood
32	chr2:190576800-190609000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr2:190576800-190627000	Weak transcription	Pancreas	Pancrea
34	chr2:190577000-190604400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr2:190577000-190611600	Weak transcription	Ovary	ovary
36	chr2:190577000-190622600	Weak transcription	Aorta	Aorta
37	chr2:190577200-190588200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr2:190577200-190593200	Weak transcription	Left Ventricle	heart
39	chr2:190577200-190611800	Weak transcription	Fetal Stomach	stomach
40	chr2:190580000-190611000	Weak transcription	Fetal Intestine Large	intestine
41	chr2:190580000-190611600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr2:190583000-190626800	Weak transcription	Psoas Muscle	Psoas
43	chr2:190585200-190608200	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr2:190585400-190606600	Weak transcription	Fetal Muscle Trunk	muscle

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