Variant report

Variant	rs62183658
Chromosome Location	chr2:190534217-190534218
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:190532520..190534373-chr2:190535606..190539403,3	K562	blood:

Variant related genes	Relation type
ENSG00000151687	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 4 )

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

rs_ID	r²[population]
rs16831821	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16831873	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16831944	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16831972	0.93[AFR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17271246	0.85[EUR][1000 genomes]
rs2164830	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2278591	0.93[AFR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2289405	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56137655	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56324258	0.84[EUR][1000 genomes]
rs5742926	0.93[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs5742985	0.86[EUR][1000 genomes]
rs5743047	0.84[EUR][1000 genomes]
rs5743077	0.80[EUR][1000 genomes]
rs62183651	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62183652	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62183653	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62183656	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62183657	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62183659	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62184265	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62184267	0.85[AFR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62184268	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62185869	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62185872	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62185874	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62185897	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6726636	0.82[EUR][1000 genomes]
rs72920421	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs62183658	ORMDL1	cis	Muscle Skeletal	GTEx
rs62183658	PMS1	Cis_1M	lymphoblastoid	RTeQTL
rs62183658	ORMDL1	Cis_1M	lymphoblastoid	RTeQTL
rs62183658	ORMDL1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190527000-190534800	Weak transcription	Lung	lung
2	chr2:190527400-190537400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr2:190527400-190538400	Weak transcription	Pancreas	Pancrea
4	chr2:190527400-190538400	Weak transcription	Right Ventricle	heart
5	chr2:190527400-190538600	Weak transcription	Esophagus	oesophagus
6	chr2:190527400-190538600	Weak transcription	Gastric	stomach
7	chr2:190527400-190539000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr2:190527600-190538600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr2:190527600-190538600	Weak transcription	Spleen	Spleen
10	chr2:190527600-190539200	Weak transcription	Small Intestine	intestine
11	chr2:190527800-190538400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:190527800-190538400	Weak transcription	Psoas Muscle	Psoas
13	chr2:190527800-190538600	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr2:190528200-190537600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr2:190528200-190541600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:190528400-190536000	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr2:190528400-190537400	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr2:190528600-190538000	Weak transcription	Fetal Heart	heart
19	chr2:190528600-190539600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr2:190528800-190537000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr2:190529000-190536000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr2:190529000-190537000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr2:190529000-190537200	Strong transcription	Placenta	Placenta
24	chr2:190529000-190537800	Strong transcription	HSMM	muscle
25	chr2:190529200-190537200	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr2:190529400-190535000	Strong transcription	Primary hematopoietic stem cells	blood
27	chr2:190529400-190537200	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr2:190529600-190537000	Strong transcription	Primary B cells from peripheral blood	blood
29	chr2:190529600-190537200	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr2:190529800-190534400	Strong transcription	Rectal Mucosa Donor 31	rectum
31	chr2:190529800-190534600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr2:190529800-190537200	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr2:190529800-190537200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr2:190529800-190537200	Strong transcription	Fetal Intestine Large	intestine
35	chr2:190529800-190537600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr2:190530000-190534400	Strong transcription	NHDF-Ad	bronchial
37	chr2:190530000-190536000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr2:190530000-190537000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr2:190530000-190537600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr2:190530000-190542800	Strong transcription	Dnd41	blood
41	chr2:190530200-190537000	Strong transcription	Primary T helper cells PMA-I stimulated	--
42	chr2:190530400-190536200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr2:190530400-190536800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr2:190530400-190537200	Strong transcription	Duodenum Mucosa	Duodenum
45	chr2:190530400-190537200	Strong transcription	NH-A	brain
46	chr2:190530400-190537800	Strong transcription	Fetal Thymus	thymus
47	chr2:190530400-190538200	Strong transcription	Fetal Muscle Leg	muscle
48	chr2:190530600-190534400	Strong transcription	Fetal Kidney	kidney
49	chr2:190530600-190535200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr2:190530600-190535400	Strong transcription	HMEC	breast

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