Variant report

Variant	rs1233264
Chromosome Location	chr2:190660128-190660129
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:190654599..190656518-chr2:190659794..190662174,2	MCF-7	breast:
2	chr2:190649682..190653858-chr2:190657943..190661151,4	K562	blood:

Variant related genes	Relation type
ENSG00000064933	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10168387	0.88[YRI][hapmap]
rs1030135	0.82[AFR][1000 genomes]
rs1225075	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs1225079	1.00[YRI][hapmap]
rs1225080	1.00[YRI][hapmap]
rs1225081	1.00[YRI][hapmap]
rs1225085	1.00[YRI][hapmap]
rs1225088	1.00[YRI][hapmap]
rs1225089	1.00[YRI][hapmap]
rs1225090	1.00[YRI][hapmap]
rs1225096	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs1225098	0.82[AFR][1000 genomes]
rs1225099	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs1225104	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs1225106	0.82[AFR][1000 genomes]
rs1225107	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs1225109	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs1225110	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs1225112	0.82[AFR][1000 genomes]
rs1225120	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs1233260	0.82[AFR][1000 genomes]
rs1233261	0.82[AFR][1000 genomes]
rs1233263	0.82[AFR][1000 genomes]
rs1235156	0.82[AFR][1000 genomes]
rs12622938	0.85[EUR][1000 genomes]
rs16831841	0.85[EUR][1000 genomes]
rs16831859	1.00[YRI][hapmap]
rs16831861	1.00[YRI][hapmap]
rs16831866	1.00[YRI][hapmap]
rs16831876	1.00[YRI][hapmap]
rs16831884	1.00[YRI][hapmap]
rs16831887	1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs16831894	1.00[YRI][hapmap]
rs16831909	1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16831964	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16832035	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17199060	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1866643	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs1899024	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs1899027	1.00[YRI][hapmap]
rs2164831	1.00[YRI][hapmap]
rs2244190	1.00[YRI][hapmap]
rs2249907	1.00[YRI][hapmap]
rs2252487	1.00[YRI][hapmap]
rs2254044	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs2254144	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs2254166	0.82[AFR][1000 genomes]
rs2254167	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs2254270	0.82[AFR][1000 genomes]
rs2255705	1.00[YRI][hapmap]
rs2256718	1.00[YRI][hapmap]
rs2256719	1.00[YRI][hapmap]
rs2262765	1.00[YRI][hapmap]
rs2439184	0.82[AFR][1000 genomes]
rs3791769	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3791772	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4666784	0.82[AFR][1000 genomes]
rs4666785	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4667307	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5742956	0.87[YRI][hapmap];0.82[AFR][1000 genomes]
rs5742959	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5742960	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5743002	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5743006	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs5743010	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs5743022	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6434364	1.00[YRI][hapmap]
rs6434369	1.00[YRI][hapmap]
rs6706168	0.82[AFR][1000 genomes]
rs6725344	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs6735135	0.82[AFR][1000 genomes]
rs7606224	1.00[YRI][hapmap];0.82[AFR][1000 genomes]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1233264	ORMDL1	Cis_1M	lymphoblastoid	RTeQTL
rs1233264	LOC51240	cis	multi-tissue	Pritchard
rs1233264	ORMDL1	cis	multi-tissue	Pritchard

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190649800-190662200	Weak transcription	Aorta	Aorta
2	chr2:190649800-190662200	Weak transcription	Left Ventricle	heart
3	chr2:190649800-190662800	Weak transcription	Lung	lung
4	chr2:190649800-190667200	Weak transcription	Pancreas	Pancrea
5	chr2:190649800-190675200	Weak transcription	Esophagus	oesophagus
6	chr2:190649800-190713400	Weak transcription	Gastric	stomach
7	chr2:190650000-190688200	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr2:190650200-190662800	Weak transcription	Psoas Muscle	Psoas
9	chr2:190650200-190668200	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr2:190650200-190669200	Weak transcription	Right Ventricle	heart
11	chr2:190650200-190673000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:190650200-190673200	Weak transcription	Small Intestine	intestine
13	chr2:190650400-190662200	Weak transcription	Brain Cingulate Gyrus	brain
14	chr2:190650400-190662200	Weak transcription	Brain Substantia Nigra	brain
15	chr2:190650400-190662600	Weak transcription	Brain Hippocampus Middle	brain
16	chr2:190650400-190662800	Weak transcription	Colon Smooth Muscle	Colon
17	chr2:190650400-190664600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr2:190650400-190666800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr2:190650400-190667400	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr2:190650400-190670400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr2:190650400-190675800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr2:190650400-190686800	Weak transcription	Thymus	Thymus
23	chr2:190650400-190688400	Weak transcription	Colonic Mucosa	Colon
24	chr2:190650400-190689800	Weak transcription	Rectal Smooth Muscle	rectum
25	chr2:190650400-190711400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr2:190650600-190661400	Weak transcription	K562	blood
27	chr2:190650600-190661800	Weak transcription	NHEK	skin
28	chr2:190650600-190664000	Weak transcription	NHLF	lung
29	chr2:190650600-190668200	Weak transcription	Fetal Brain Female	brain
30	chr2:190650600-190683200	Weak transcription	Fetal Brain Male	brain
31	chr2:190650600-190688800	Weak transcription	Fetal Heart	heart
32	chr2:190650600-190693200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr2:190650600-190700400	Weak transcription	Hela-S3	cervix
34	chr2:190650800-190661200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr2:190650800-190675200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr2:190651000-190661000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr2:190651000-190673000	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr2:190651000-190673400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr2:190651200-190673800	Weak transcription	Brain Germinal Matrix	brain
40	chr2:190653400-190673000	Strong transcription	HUES48 Cell Line	embryonic stem cell
41	chr2:190655000-190671800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr2:190655800-190661800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr2:190656000-190660800	Strong transcription	Primary hematopoietic stem cells	blood
44	chr2:190656000-190662800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr2:190656000-190663000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr2:190656000-190663400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr2:190656200-190662600	Strong transcription	HSMM	muscle
48	chr2:190656200-190663400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr2:190656200-190663400	Strong transcription	Fetal Muscle Trunk	muscle
50	chr2:190656200-190670800	Strong transcription	HepG2	liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links