Variant report

Variant	rs1055091
Chromosome Location	chr2:190635143-190635144
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:190631241..190636295-chr2:190636583..190640272,4	K562	blood:
2	chr2:190626018..190630546-chr2:190631744..190636793,10	K562	blood:
3	chr2:190625930..190630327-chr2:190630673..190638393,9	K562	blood:
4	chr2:190634458..190636965-chr2:190638954..190642659,3	MCF-7	breast:
5	chr2:190634845..190637488-chr2:190645702..190648175,2	K562	blood:
6	chr2:190632138..190639565-chr2:190646675..190650810,8	K562	blood:
7	chr2:190634478..190636645-chr2:190640772..190642999,2	K562	blood:
8	chr2:190631446..190641228-chr2:190647618..190650786,10	MCF-7	breast:
9	chr2:190634789..190636320-chr2:190648047..190649597,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000128699	Chromatin interaction
ENSG00000064933	Chromatin interaction
ENSG00000128694	Chromatin interaction
ENSG00000273240	Chromatin interaction
ENSG00000253559	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 31 )

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10195109	0.80[CEU][hapmap];0.82[JPT][hapmap]
rs10197331	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10207346	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10210345	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10931430	0.92[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.97[LWK][hapmap];0.95[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10931431	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10931433	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1132360	0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[EUR][1000 genomes]
rs11679767	0.83[ASW][hapmap];0.90[CEU][hapmap];0.94[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.95[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11685425	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1225101	0.84[JPT][hapmap]
rs1233245	0.84[CEU][hapmap];0.94[CHB][hapmap];0.88[JPT][hapmap];0.83[EUR][1000 genomes]
rs1233262	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1233265	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1233272	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1233282	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1233284	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1233288	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1233291	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1233297	0.95[CEU][hapmap];0.94[CHB][hapmap];0.94[CHD][hapmap];0.81[GIH][hapmap];0.94[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1233299	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1233302	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1234834	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12471217	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12693551	0.90[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes]
rs12693557	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12990627	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12992061	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13002216	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13009889	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13011710	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13026135	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13035966	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1437891	0.92[ASW][hapmap];0.90[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.97[LWK][hapmap];0.90[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1550388	0.80[CEU][hapmap];0.81[CHD][hapmap];0.82[JPT][hapmap]
rs1898560	0.80[CEU][hapmap];0.81[CHD][hapmap];0.88[JPT][hapmap]
rs1899025	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2017410	0.84[CEU][hapmap];0.82[EUR][1000 genomes]
rs2033746	1.00[CEU][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2033870	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.94[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2164832	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2264018	0.84[CEU][hapmap];0.86[JPT][hapmap]
rs2289226	0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap];0.97[TSI][hapmap];0.83[EUR][1000 genomes]
rs3791767	0.80[CEU][hapmap];0.81[CHD][hapmap];0.88[JPT][hapmap]
rs3791770	0.80[CEU][hapmap];0.88[JPT][hapmap]
rs3791773	0.80[CEU][hapmap];0.88[JPT][hapmap]
rs3816196	1.00[ASW][hapmap];0.95[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.90[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4525728	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4666783	0.80[CEU][hapmap];0.87[JPT][hapmap]
rs4667297	0.90[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes]
rs4667299	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs5742933	0.87[JPT][hapmap]
rs5742938	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5743061	0.85[CEU][hapmap];0.86[CHD][hapmap];0.88[JPT][hapmap];0.90[MEX][hapmap]
rs5743063	0.85[CEU][hapmap];0.88[CHD][hapmap];0.88[JPT][hapmap];0.81[MEX][hapmap]
rs6434365	0.80[CEU][hapmap];0.82[JPT][hapmap]
rs6719224	0.80[CEU][hapmap];0.87[JPT][hapmap]
rs6738042	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6741074	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6942	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7557519	0.80[CEU][hapmap];0.81[CHD][hapmap];0.82[JPT][hapmap]
rs7568449	0.94[CHB][hapmap];0.91[CHD][hapmap];0.94[JPT][hapmap];0.88[TSI][hapmap]
rs7571089	0.90[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7591929	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];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7592066	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7595020	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs893784	0.91[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap];0.95[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs920427	0.81[CEU][hapmap];0.80[EUR][1000 genomes]
rs9646811	0.84[CHB][hapmap]

mRNA abundance (count:31)

SNP	Gene	Cis/trans	Tissue	Source
rs1055091	ORMDL1	cis	normal skin	skin_eQTL
rs1055091	PMS1	cis	cerebellum	SCAN
rs1055091	ASNSD1	cis	Thyroid	GTEx
rs1055091	ASNSD1	cis	Whole Blood	GTEx
rs1055091	ASNSD1	cis	Artery Aorta	GTEx
rs1055091	ASNSD1	cis	Nerve Tibial	GTEx
rs1055091	ASNSD1	Cis_1M	lymphoblastoid	RTeQTL
rs1055091	ORMDL1	cis	uninvolved skin	skin_eQTL
rs1055091	LOC51240	cis	multi-tissue	Pritchard
rs1055091	ORMDL1	cis	Lymphoblastoid	GTEx
rs1055091	PMS1	Cis_1M	lymphoblastoid	RTeQTL
rs1055091	ASNSD1	cis	parietal	SCAN
rs1055091	ORMDL1	cis	Skin Sun Exposed Lower leg	GTEx
rs1055091	ORMDL1	cis	lymphoblastoid	seeQTL
rs1055091	ORMDL1	Cis_1M	lymphoblastoid	RTeQTL
rs1055091	DIRC1	cis	parietal	SCAN
rs1055091	ORMDL1	cis	Heart Left Ventricle	GTEx
rs1055091	ORMDL1	cis	Nerve Tibial	GTEx
rs1055091	ASNSD1	cis	Esophagus Muscularis	GTEx
rs1055091	ORMDL1	cis	Artery Tibial	GTEx
rs1055091	MFSD6	cis	cerebellum	SCAN
rs1055091	ASNSD1	cis	Artery Tibial	GTEx
rs1055091	ORMDL1	cis	cerebellum	SCAN
rs1055091	PMS1	cis	parietal	SCAN
rs1055091	ASNSD1	cis	cerebellum	SCAN
rs1055091	ORMDL1	cis	multi-tissue	Pritchard
rs1055091	ORMDL1	cis	lesional skin	skin_eQTL
rs1055091	ORMDL1	cis	parietal	SCAN
rs1055091	ORMDL1	cis	Muscle Skeletal	GTEx
rs1055091	ORMDL1	cis	Adipose Subcutaneous	GTEx
rs1055091	HIBCH	cis	parietal	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190627800-190642800	Weak transcription	Spleen	Spleen
2	chr2:190627800-190648200	Weak transcription	Gastric	stomach
3	chr2:190628200-190635400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr2:190628200-190635800	Weak transcription	Fetal Heart	heart
5	chr2:190628200-190635800	Weak transcription	Ovary	ovary
6	chr2:190628200-190638000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:190628200-190638000	Weak transcription	Right Ventricle	heart
8	chr2:190628200-190638400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr2:190628200-190638600	Weak transcription	Colonic Mucosa	Colon
10	chr2:190628200-190642800	Weak transcription	Lung	lung
11	chr2:190628200-190643200	Weak transcription	Esophagus	oesophagus
12	chr2:190628200-190645600	Weak transcription	Pancreas	Pancrea
13	chr2:190628200-190648000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr2:190628200-190648000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr2:190628200-190648200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:190628400-190635400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr2:190628400-190635600	Weak transcription	Brain Germinal Matrix	brain
18	chr2:190628400-190635800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr2:190628400-190635800	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr2:190628400-190642800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr2:190628400-190648000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr2:190628600-190635400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr2:190628600-190635400	Weak transcription	Aorta	Aorta
24	chr2:190628600-190635800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr2:190628600-190635800	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr2:190628600-190636200	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr2:190628600-190637200	Weak transcription	Fetal Kidney	kidney
28	chr2:190628600-190637600	Weak transcription	Fetal Brain Female	brain
29	chr2:190628600-190638800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr2:190628600-190638800	Weak transcription	Brain Cingulate Gyrus	brain
31	chr2:190628600-190642800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr2:190628600-190642800	Weak transcription	Fetal Intestine Small	intestine
33	chr2:190628600-190642800	Weak transcription	Thymus	Thymus
34	chr2:190628600-190647000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr2:190628600-190647200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr2:190628600-190647200	Weak transcription	Stomach Mucosa	stomach
37	chr2:190628600-190648400	Weak transcription	Small Intestine	intestine
38	chr2:190628800-190635400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr2:190628800-190635400	Weak transcription	Colon Smooth Muscle	Colon
40	chr2:190628800-190636200	Weak transcription	Psoas Muscle	Psoas
41	chr2:190628800-190638000	Weak transcription	Brain Angular Gyrus	brain
42	chr2:190628800-190638600	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr2:190628800-190638800	Weak transcription	Rectal Smooth Muscle	rectum
44	chr2:190628800-190639200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr2:190628800-190642800	Weak transcription	Fetal Stomach	stomach
46	chr2:190629000-190638000	Weak transcription	Brain Substantia Nigra	brain
47	chr2:190629000-190638600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr2:190629000-190644200	Weak transcription	Fetal Brain Male	brain
49	chr2:190629000-190647200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr2:190629200-190636200	Weak transcription	Skeletal Muscle Female	skeletal muscle

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