Variant report

Variant	rs5743208
Chromosome Location	chr2:190743048-190743049
allele	C/T
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	chr2:190743045-190743083	HepG2	liver:	n/a	n/a
2	POLR2A	chr2:190743012-190744945	K562	blood:	n/a	n/a

Variant related genes	Relation type
C2orf88	TF binding region

Extended variants
information (count: 46 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1030136	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11688123	0.82[ASN][1000 genomes]
rs12053254	0.85[CEU][hapmap];0.88[EUR][1000 genomes]
rs12479375	0.88[CHD][hapmap];0.86[JPT][hapmap]
rs12618262	0.84[ASW][hapmap];1.00[CEU][hapmap];0.93[CHB][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.88[LWK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12997257	0.86[ASN][1000 genomes]
rs16832155	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16832158	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs256539	0.86[ASN][1000 genomes]
rs256540	0.86[ASN][1000 genomes]
rs256541	0.83[ASN][1000 genomes]
rs256542	0.82[ASN][1000 genomes]
rs256549	0.84[ASN][1000 genomes]
rs256550	0.88[CHD][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs256551	0.84[ASN][1000 genomes]
rs256552	0.88[CHD][hapmap];0.92[JPT][hapmap];0.84[ASN][1000 genomes]
rs256556	0.84[ASN][1000 genomes]
rs256562	0.84[ASN][1000 genomes]
rs256563	0.97[CHD][hapmap];0.93[JPT][hapmap];0.84[ASN][1000 genomes]
rs256564	0.93[JPT][hapmap];0.84[ASN][1000 genomes]
rs256567	0.93[JPT][hapmap];0.85[ASN][1000 genomes]
rs256572	0.83[ASN][1000 genomes]
rs256580	0.83[ASN][1000 genomes]
rs3762543	0.85[CEU][hapmap]
rs4666782	0.85[CEU][hapmap];0.82[GIH][hapmap];1.00[TSI][hapmap];0.82[EUR][1000 genomes]
rs4667304	0.85[CEU][hapmap];0.88[EUR][1000 genomes]
rs4853634	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4920654	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4920657	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4920658	0.85[EUR][1000 genomes]
rs4920660	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4920662	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5742967	0.90[GIH][hapmap];1.00[TSI][hapmap]
rs5742981	0.85[CEU][hapmap];1.00[TSI][hapmap];0.82[EUR][1000 genomes]
rs5743004	0.85[CEU][hapmap];0.91[GIH][hapmap];1.00[TSI][hapmap];0.82[EUR][1000 genomes]
rs5743030	0.85[CEU][hapmap];0.91[GIH][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes]
rs5743044	0.91[EUR][1000 genomes]
rs5743100	0.85[CEU][hapmap];0.85[JPT][hapmap];0.94[EUR][1000 genomes]
rs5743112	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5743116	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5743117	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5743202	0.87[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6736360	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs733318	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7593661	0.82[ASN][1000 genomes]
rs7603201	0.82[ASN][1000 genomes]

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs5743208	ASNSD1	cis	Esophagus Muscularis	GTEx
rs5743208	ORMDL1	cis	multi-tissue	Pritchard
rs5743208	LOC51240	cis	multi-tissue	Pritchard
rs5743208	ORMDL1	cis	lymphoblastoid	seeQTL
rs5743208	TNFSF10	trans	lymphoblastoid	RTeQTL
rs5743208	PMS1	Cis_1M	lymphoblastoid	RTeQTL
rs5743208	ORMDL1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190658200-190743800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr2:190659800-190743600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr2:190669400-190743800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr2:190684000-190743600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr2:190691000-190744200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr2:190701200-190743200	Weak transcription	Fetal Brain Male	brain
7	chr2:190701400-190744000	Weak transcription	Fetal Brain Female	brain
8	chr2:190701600-190743200	Weak transcription	Stomach Smooth Muscle	stomach
9	chr2:190701600-190744800	Weak transcription	Rectal Smooth Muscle	rectum
10	chr2:190701800-190745200	Weak transcription	Fetal Kidney	kidney
11	chr2:190702400-190745600	Weak transcription	Colon Smooth Muscle	Colon
12	chr2:190707600-190746000	Weak transcription	Left Ventricle	heart
13	chr2:190708400-190743400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr2:190708800-190744400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr2:190709600-190744000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr2:190713200-190743400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr2:190713200-190743800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr2:190713200-190745600	Weak transcription	Pancreas	Pancrea
19	chr2:190713800-190743800	Weak transcription	Fetal Intestine Large	intestine
20	chr2:190713800-190744400	Weak transcription	Gastric	stomach
21	chr2:190713800-190744800	Weak transcription	K562	blood
22	chr2:190714600-190743800	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr2:190714600-190744000	Weak transcription	Fetal Stomach	stomach
24	chr2:190714600-190744400	Weak transcription	Psoas Muscle	Psoas
25	chr2:190714800-190745200	Weak transcription	NHEK	skin
26	chr2:190715600-190744800	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr2:190716000-190743400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:190716600-190743400	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr2:190716600-190744200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr2:190716800-190744200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr2:190718600-190745800	Weak transcription	Fetal Intestine Small	intestine
32	chr2:190719800-190743600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr2:190719800-190743800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr2:190720000-190743400	Weak transcription	Duodenum Mucosa	Duodenum
35	chr2:190720000-190744000	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr2:190720000-190744000	Weak transcription	NH-A	brain
37	chr2:190722200-190745600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr2:190725200-190746000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr2:190729000-190745200	Weak transcription	HUVEC	blood vessel
40	chr2:190729200-190743800	Weak transcription	Fetal Thymus	thymus
41	chr2:190729600-190743200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr2:190729800-190745800	Weak transcription	Thymus	Thymus
43	chr2:190730400-190744200	Weak transcription	Esophagus	oesophagus
44	chr2:190730800-190744800	Weak transcription	NHLF	lung
45	chr2:190731600-190745200	Weak transcription	NHDF-Ad	bronchial
46	chr2:190732000-190744800	Weak transcription	HepG2	liver
47	chr2:190732200-190744800	Weak transcription	A549	lung
48	chr2:190732800-190745800	Weak transcription	Fetal Lung	lung
49	chr2:190733400-190743800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr2:190735600-190743600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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