Variant report

Variant	rs7557519
Chromosome Location	chr2:190583187-190583188
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 24 )

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10195109	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10210345	0.80[CEU][hapmap]
rs1055091	0.80[CEU][hapmap];0.81[CHD][hapmap];0.82[JPT][hapmap]
rs10931430	0.85[CEU][hapmap];0.81[CHD][hapmap];0.87[JPT][hapmap]
rs1132360	0.84[CEU][hapmap];0.87[JPT][hapmap]
rs11679767	0.80[CEU][hapmap];0.81[CHD][hapmap];0.87[JPT][hapmap]
rs11885423	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12052909	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1225101	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1233245	0.82[CEU][hapmap]
rs1233284	0.81[CHD][hapmap];0.82[JPT][hapmap]
rs1233288	0.80[CEU][hapmap];0.81[CHD][hapmap];0.82[JPT][hapmap]
rs12618231	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12619808	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12622902	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12693551	0.80[CEU][hapmap];0.81[CHD][hapmap];0.87[JPT][hapmap]
rs12693557	0.80[CEU][hapmap];0.87[JPT][hapmap]
rs1317751	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1437891	0.80[CEU][hapmap];0.83[CHD][hapmap];0.87[JPT][hapmap]
rs1550388	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1609883	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16831873	0.93[TSI][hapmap]
rs16831925	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16831939	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16831955	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1898560	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1899025	0.80[CEU][hapmap];0.80[CHD][hapmap];0.82[JPT][hapmap]
rs1966729	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2017410	0.82[CEU][hapmap]
rs2033746	0.80[CEU][hapmap]
rs2033870	0.80[CEU][hapmap];0.81[CHD][hapmap];0.87[JPT][hapmap]
rs2264018	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2289226	0.85[CEU][hapmap];0.81[CHD][hapmap];0.87[JPT][hapmap]
rs2289404	1.00[ASW][hapmap];0.89[CEU][hapmap];0.97[CHD][hapmap];0.94[GIH][hapmap];0.82[JPT][hapmap];0.97[LWK][hapmap];0.89[MEX][hapmap];1.00[MKK][hapmap];0.89[TSI][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3762545	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3791767	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3791770	1.00[CEU][hapmap];0.92[CHB][hapmap];0.93[JPT][hapmap];0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3791773	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3816196	0.82[JPT][hapmap]
rs4666781	0.86[AFR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4666783	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4667297	0.80[CEU][hapmap];0.81[CHD][hapmap];0.87[JPT][hapmap]
rs4667306	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55675300	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55792400	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5742933	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs5742938	0.80[CEU][hapmap];0.81[CHD][hapmap];0.82[JPT][hapmap]
rs5742998	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs5743017	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5743032	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5743047	0.93[TSI][hapmap]
rs5743052	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5743061	0.94[CEU][hapmap];0.82[JPT][hapmap];0.85[MEX][hapmap];0.83[TSI][hapmap]
rs5743063	0.94[CEU][hapmap];0.81[CHD][hapmap];0.82[JPT][hapmap];0.84[MEX][hapmap];0.83[TSI][hapmap]
rs5743072	0.82[TSI][hapmap]
rs62184283	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62184286	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62185871	0.83[AFR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6434363	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6434365	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6717922	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6719224	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];0.93[JPT][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6942	0.80[CEU][hapmap];0.82[JPT][hapmap]
rs7568449	0.87[JPT][hapmap]
rs7571089	0.80[CEU][hapmap];0.87[JPT][hapmap]
rs7591929	0.80[CEU][hapmap];0.81[CHD][hapmap];0.82[JPT][hapmap]
rs893784	0.85[CEU][hapmap];0.81[CHD][hapmap];0.87[JPT][hapmap]

mRNA abundance (count:24)

SNP	Gene	Cis/trans	Tissue	Source
rs7557519	ORMDL1	cis	parietal	SCAN
rs7557519	PMS1	cis	cerebellum	SCAN
rs7557519	ASNSD1	cis	parietal	SCAN
rs7557519	ORMDL1	cis	brain	seeQTL
rs7557519	ASNSD1	cis	Whole Blood	GTEx
rs7557519	ORMDL1	cis	lymphoblastoid	seeQTL
rs7557519	ASNSD1	Cis_1M	lymphoblastoid	RTeQTL
rs7557519	ORMDL1	cis	Skin Sun Exposed Lower leg	GTEx
rs7557519	ORMDL1	Cis_1M	lymphoblastoid	RTeQTL
rs7557519	ORMDL1	cis	Lymphoblastoid	GTEx
rs7557519	NBLA00058	cis	multi-tissue	Pritchard
rs7557519	ORMDL1	cis	multi-tissue	Pritchard
rs7557519	ORMDL1	cis	Muscle Skeletal	GTEx
rs7557519	PMS1	cis	parietal	SCAN
rs7557519	MFSD6	cis	cerebellum	SCAN
rs7557519	LOC51240	cis	multi-tissue	Pritchard
rs7557519	ORMDL1	cis	Nerve Tibial	GTEx
rs7557519	ORMDL1	cis	lesional skin	skin_eQTL
rs7557519	ORMDL1	cis	cerebellum	SCAN
rs7557519	ORMDL1	cis	Heart Left Ventricle	GTEx
rs7557519	ASNSD1	cis	cerebellum	SCAN
rs7557519	PMS1	Cis_1M	lymphoblastoid	RTeQTL
rs7557519	ORMDL1	cis	uninvolved skin	skin_eQTL
rs7557519	ORMDL1	cis	normal skin	skin_eQTL

Chromatin state (count:43 , 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	chr2:190576600-190585000	Weak transcription	Fetal Brain Female	brain
30	chr2:190576800-190592600	Weak transcription	Adipose Nuclei	Adipose
31	chr2:190576800-190593000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr2:190576800-190608200	Weak transcription	Primary hematopoietic stem cells	blood
33	chr2:190576800-190609000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr2:190576800-190627000	Weak transcription	Pancreas	Pancrea
35	chr2:190577000-190604400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr2:190577000-190611600	Weak transcription	Ovary	ovary
37	chr2:190577000-190622600	Weak transcription	Aorta	Aorta
38	chr2:190577200-190588200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr2:190577200-190593200	Weak transcription	Left Ventricle	heart
40	chr2:190577200-190611800	Weak transcription	Fetal Stomach	stomach
41	chr2:190580000-190611000	Weak transcription	Fetal Intestine Large	intestine
42	chr2:190580000-190611600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr2:190583000-190626800	Weak transcription	Psoas Muscle	Psoas

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