Variant report

Variant	rs10168387
Chromosome Location	chr2:190647108-190647109
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	CEBPB	chr2:190646870-190647306	A549	lung:	n/a	chr2:190646979-190646990
2	MAFK	chr2:190647053-190647384	K562	blood:	n/a	chr2:190647199-190647214
3	CEBPB	chr2:190646852-190647347	K562	blood:	n/a	chr2:190646979-190646990
4	CEBPB	chr2:190646809-190647162	Hela-S3	cervix:	n/a	chr2:190646979-190646990
5	MAFF	chr2:190647023-190647491	HepG2	liver:	n/a	chr2:190647197-190647215
6	MXI1	chr2:190646968-190650605	SK-N-SH	brain:	n/a	n/a
7	ARID3A	chr2:190647082-190647472	HepG2	liver:	n/a	n/a
8	FOXA1	chr2:190647072-190647455	HepG2	liver:	n/a	n/a
9	CEBPB	chr2:190646800-190647361	IMR90	lung:	n/a	chr2:190646979-190646990
10	MAFF	chr2:190647042-190647326	K562	blood:	n/a	chr2:190647197-190647215
11	MAFK	chr2:190647024-190647542	HepG2	liver:	n/a	chr2:190647481-190647498 chr2:190647199-190647214
12	CEBPB	chr2:190646832-190647176	A549	lung:	n/a	chr2:190646979-190646990
13	CEBPB	chr2:190646824-190647285	K562	blood:	n/a	chr2:190646979-190646990
14	MAFK	chr2:190647019-190647626	HepG2	liver:	n/a	chr2:190647481-190647498 chr2:190647199-190647214
15	FOXA1	chr2:190647031-190647537	HepG2	liver:	n/a	n/a
16	CEBPB	chr2:190646816-190647396	HepG2	liver:	n/a	chr2:190646979-190646990
17	MAFK	chr2:190647030-190647467	IMR90	lung:	n/a	chr2:190647199-190647214
18	TEAD4	chr2:190646984-190647529	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:190632138..190639565-chr2:190646675..190650810,8	K562	blood:
2	chr2:190640380..190645016-chr2:190647065..190650284,8	MCF-7	breast:
3	chr2:190626523..190630050-chr2:190647058..190650887,5	MCF-7	breast:
4	chr2:190524324..190528374-chr2:190645867..190651485,5	K562	blood:
5	chr2:190636758..190640017-chr2:190647080..190650145,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000231145	TF binding region
PMS1	TF binding region
ENSG00000128699	Chromatin interaction
ENSG00000253559	Chromatin interaction
ENSG00000128694	Chromatin interaction
ENSG00000273240	Chromatin interaction
ENSG00000231145	Chromatin interaction
ENSG00000138381	Chromatin interaction

Extended variants
information (count: 104 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:104)

rs_ID	r²[population]
rs1030135	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1145231	1.00[AMR][1000 genomes]
rs1145232	1.00[AMR][1000 genomes]
rs1145233	1.00[AMR][1000 genomes]
rs1145234	1.00[MKK][hapmap];1.00[AMR][1000 genomes]
rs1225075	0.88[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1225079	0.88[YRI][hapmap];1.00[AMR][1000 genomes]
rs1225080	0.88[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1225081	0.88[YRI][hapmap];1.00[AMR][1000 genomes]
rs1225084	1.00[AMR][1000 genomes]
rs1225085	0.88[YRI][hapmap]
rs1225087	1.00[AMR][1000 genomes]
rs1225088	0.88[YRI][hapmap];1.00[AMR][1000 genomes]
rs1225089	0.88[YRI][hapmap];1.00[AMR][1000 genomes]
rs1225090	0.88[YRI][hapmap];1.00[AMR][1000 genomes]
rs1225092	1.00[AMR][1000 genomes]
rs1225096	0.88[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1225098	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1225099	0.88[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1225104	0.88[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1225106	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1225107	0.87[LWK][hapmap];0.88[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1225109	0.88[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1225110	0.88[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1225112	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1225114	1.00[AMR][1000 genomes]
rs1225116	1.00[AMR][1000 genomes]
rs1225120	0.88[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1233241	1.00[AMR][1000 genomes]
rs1233242	1.00[AMR][1000 genomes]
rs1233243	1.00[AMR][1000 genomes]
rs1233244	1.00[AMR][1000 genomes]
rs1233246	1.00[AMR][1000 genomes]
rs1233247	1.00[MKK][hapmap];1.00[AMR][1000 genomes]
rs1233248	1.00[AMR][1000 genomes]
rs1233249	1.00[AMR][1000 genomes]
rs1233250	1.00[AMR][1000 genomes]
rs1233251	1.00[AMR][1000 genomes]
rs1233252	1.00[AMR][1000 genomes]
rs1233253	1.00[AMR][1000 genomes]
rs1233254	1.00[AMR][1000 genomes]
rs1233256	1.00[AMR][1000 genomes]
rs1233257	1.00[AMR][1000 genomes]
rs1233260	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1233261	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1233263	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1233264	0.88[YRI][hapmap]
rs1233266	1.00[AMR][1000 genomes]
rs1233275	0.87[LWK][hapmap];1.00[MKK][hapmap];1.00[AMR][1000 genomes]
rs1233277	1.00[AMR][1000 genomes]
rs1233280	1.00[AMR][1000 genomes]
rs1233281	1.00[AMR][1000 genomes]
rs1233283	1.00[AMR][1000 genomes]
rs1233287	1.00[AMR][1000 genomes]
rs1233289	1.00[AMR][1000 genomes]
rs1233292	1.00[AMR][1000 genomes]
rs1233293	1.00[AMR][1000 genomes]
rs1233294	1.00[AMR][1000 genomes]
rs1233298	1.00[AMR][1000 genomes]
rs1233300	1.00[AMR][1000 genomes]
rs1233303	1.00[AMR][1000 genomes]
rs1235156	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1238785	1.00[AMR][1000 genomes]
rs13034572	1.00[AMR][1000 genomes]
rs1530143	1.00[AMR][1000 genomes]
rs16831859	0.88[YRI][hapmap];1.00[AMR][1000 genomes]
rs16831861	0.88[YRI][hapmap];1.00[AMR][1000 genomes]
rs16831866	0.88[YRI][hapmap];1.00[AMR][1000 genomes]
rs16831876	0.88[YRI][hapmap];1.00[AMR][1000 genomes]
rs16831884	0.88[YRI][hapmap];1.00[AMR][1000 genomes]
rs16831894	0.88[YRI][hapmap];1.00[AMR][1000 genomes]
rs1866643	0.88[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1899024	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1899027	0.88[YRI][hapmap];1.00[AMR][1000 genomes]
rs2066459	1.00[JPT][hapmap]
rs2164831	0.88[YRI][hapmap];1.00[AMR][1000 genomes]
rs2243894	1.00[AMR][1000 genomes]
rs2244190	0.87[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2245742	1.00[AMR][1000 genomes]
rs2245753	1.00[AMR][1000 genomes]
rs2249907	0.88[YRI][hapmap];1.00[AMR][1000 genomes]
rs2252486	1.00[AMR][1000 genomes]
rs2252487	0.88[YRI][hapmap];1.00[AMR][1000 genomes]
rs2254044	0.88[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2254144	0.88[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2254166	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2254167	0.88[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2254270	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2255705	0.88[YRI][hapmap];1.00[AMR][1000 genomes]
rs2256718	1.00[YRI][hapmap]
rs2256719	0.88[YRI][hapmap];1.00[AMR][1000 genomes]
rs2262765	0.88[YRI][hapmap];1.00[AMR][1000 genomes]
rs2438282	1.00[AMR][1000 genomes]
rs2439184	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2544056	1.00[AMR][1000 genomes]
rs4666784	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5742956	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6434364	0.88[YRI][hapmap]
rs6434369	0.88[YRI][hapmap]
rs6706168	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6709840	1.00[AMR][1000 genomes]
rs6725344	0.88[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6735135	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7606224	0.88[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10168387	ORMDL1	cis	lymphoblastoid	seeQTL
rs10168387	LOC51240	cis	multi-tissue	Pritchard
rs10168387	ORMDL1	cis	multi-tissue	Pritchard

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190627800-190648200	Weak transcription	Gastric	stomach
2	chr2:190628200-190648000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:190628200-190648000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:190628200-190648200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:190628400-190648000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr2:190628600-190647200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:190628600-190647200	Weak transcription	Stomach Mucosa	stomach
8	chr2:190628600-190648400	Weak transcription	Small Intestine	intestine
9	chr2:190629000-190647200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr2:190631200-190647200	Strong transcription	Fetal Thymus	thymus
11	chr2:190632800-190647200	Strong transcription	Primary B cells from peripheral blood	blood
12	chr2:190634200-190647400	Strong transcription	Fetal Muscle Trunk	muscle
13	chr2:190634600-190647200	Strong transcription	H1 Cell Line	embryonic stem cell
14	chr2:190634600-190647200	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr2:190634600-190647200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
16	chr2:190635000-190647200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
17	chr2:190635200-190647200	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr2:190640200-190647200	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr2:190641600-190647200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr2:190641800-190648000	Weak transcription	Colonic Mucosa	Colon
21	chr2:190643200-190647200	Strong transcription	Fetal Muscle Leg	muscle
22	chr2:190643600-190647600	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr2:190644000-190647200	Genic enhancers	Primary T helper cells fromperipheralblood	blood
24	chr2:190644000-190648200	Weak transcription	Esophagus	oesophagus
25	chr2:190644000-190648200	Weak transcription	Spleen	Spleen
26	chr2:190644200-190647200	Weak transcription	Fetal Intestine Small	intestine
27	chr2:190644200-190648200	Weak transcription	Lung	lung
28	chr2:190644400-190647200	Weak transcription	Fetal Brain Female	brain
29	chr2:190644400-190647800	Weak transcription	Thymus	Thymus
30	chr2:190644600-190647200	Weak transcription	Right Ventricle	heart
31	chr2:190645000-190647200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr2:190645000-190647200	Weak transcription	Brain Anterior Caudate	brain
33	chr2:190645000-190647200	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr2:190645200-190647200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr2:190645200-190647200	Weak transcription	Left Ventricle	heart
36	chr2:190645200-190647400	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
37	chr2:190645200-190647600	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr2:190645800-190647200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr2:190645800-190647800	Enhancers	Liver	Liver
40	chr2:190645800-190648000	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr2:190646000-190647600	Genic enhancers	Primary T cells from cord blood	blood
42	chr2:190646000-190647800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr2:190646000-190647800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr2:190646000-190648200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr2:190646200-190647200	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr2:190646200-190647200	Weak transcription	Brain Hippocampus Middle	brain
47	chr2:190646200-190647400	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr2:190646200-190647800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr2:190646400-190648200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
50	chr2:190646600-190647200	Weak transcription	Placenta	Placenta

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