Variant report

Variant	rs5743032
Chromosome Location	chr2:190678803-190678804
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:190675814..190678803-chr2:190682468..190684983,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000064933	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10195109	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11885423	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12052909	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1233272	0.82[AMR][1000 genomes]
rs12618231	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12619808	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12622902	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1317751	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1550388	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1609883	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16831925	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16831939	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16831955	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1898560	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1966729	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2264018	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2289404	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3762545	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3791767	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3791770	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3791773	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4666781	0.82[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs4666783	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4667306	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55675300	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55792400	0.88[EUR][1000 genomes]
rs5742933	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5742998	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5743017	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5743030	0.80[AFR][1000 genomes]
rs5743052	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5743061	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs5743063	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62184283	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62184286	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62185871	0.88[EUR][1000 genomes]
rs6434363	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6434365	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6717922	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6719224	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7557519	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[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	nsv3080	chr2:190661654-190706515	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs5743032	ORMDL1	cis	Heart Left Ventricle	GTEx
rs5743032	ASNSD1	cis	Whole Blood	GTEx
rs5743032	ORMDL1	cis	Nerve Tibial	GTEx
rs5743032	ORMDL1	cis	Muscle Skeletal	GTEx
rs5743032	PMS1	Cis_1M	lymphoblastoid	RTeQTL
rs5743032	ORMDL1	cis	Skin Sun Exposed Lower leg	GTEx
rs5743032	ORMDL1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190649800-190713400	Weak transcription	Gastric	stomach
2	chr2:190650000-190688200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr2:190650400-190686800	Weak transcription	Thymus	Thymus
4	chr2:190650400-190688400	Weak transcription	Colonic Mucosa	Colon
5	chr2:190650400-190689800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr2:190650400-190711400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr2:190650600-190683200	Weak transcription	Fetal Brain Male	brain
8	chr2:190650600-190688800	Weak transcription	Fetal Heart	heart
9	chr2:190650600-190693200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr2:190650600-190700400	Weak transcription	Hela-S3	cervix
11	chr2:190656800-190685000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr2:190656800-190721000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr2:190658200-190743800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr2:190659000-190685000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr2:190659200-190681200	Weak transcription	Spleen	Spleen
16	chr2:190659800-190686800	Weak transcription	Fetal Stomach	stomach
17	chr2:190659800-190743600	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr2:190661400-190717800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr2:190662600-190683000	Weak transcription	Adipose Nuclei	Adipose
20	chr2:190662600-190686800	Weak transcription	Left Ventricle	heart
21	chr2:190662800-190719000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr2:190663000-190682600	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr2:190663000-190682800	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr2:190663000-190683000	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr2:190663000-190685600	Weak transcription	Brain Anterior Caudate	brain
26	chr2:190663000-190701600	Weak transcription	Psoas Muscle	Psoas
27	chr2:190663000-190712800	Weak transcription	Aorta	Aorta
28	chr2:190663200-190683000	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr2:190663200-190700600	Weak transcription	Colon Smooth Muscle	Colon
30	chr2:190663200-190712400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr2:190663400-190683400	Weak transcription	Brain Hippocampus Middle	brain
32	chr2:190664600-190680000	Weak transcription	Stomach Smooth Muscle	stomach
33	chr2:190664600-190683600	Weak transcription	Brain Cingulate Gyrus	brain
34	chr2:190664800-190686800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr2:190664800-190741800	Weak transcription	Brain Angular Gyrus	brain
36	chr2:190665000-190683000	Weak transcription	HUVEC	blood vessel
37	chr2:190665000-190684400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr2:190665000-190696600	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr2:190666600-190683600	Strong transcription	HSMM	muscle
40	chr2:190667400-190683200	Weak transcription	NHLF	lung
41	chr2:190667600-190683600	Weak transcription	HMEC	breast
42	chr2:190667800-190686800	Weak transcription	Pancreas	Pancrea
43	chr2:190668400-190684400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr2:190669400-190683800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr2:190669400-190686800	Weak transcription	Lung	lung
46	chr2:190669400-190743800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr2:190669600-190679400	Weak transcription	Primary B cells from peripheral blood	blood
48	chr2:190669600-190709600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr2:190669600-190713200	Weak transcription	Ovary	ovary
50	chr2:190669800-190679800	Weak transcription	Fetal Muscle Trunk	muscle

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