Variant report

Variant	rs62184268
Chromosome Location	chr2:190632177-190632178
allele	A/G
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	chr2:190632018-190632215	MCF10A-Er-Src	breast:	n/a	n/a
2	GATA1	chr2:190632093-190632866	PBDE	blood:	n/a	chr2:190632420-190632427 chr2:190632420-190632429 chr2:190632418-190632430 chr2:190632419-190632429

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	chr2:190630336..190633530-chr2:190635479..190638819,5	MCF-7	breast:
4	chr2:190625930..190630327-chr2:190630673..190638393,9	K562	blood:
5	chr2:190632138..190639565-chr2:190646675..190650810,8	K562	blood:
6	chr2:190631446..190641228-chr2:190647618..190650786,10	MCF-7	breast:
7	chr2:190632138..190635108-chr2:190648744..190650810,3	K562	blood:

Variant related genes	Relation type
ENSG00000273240	TF binding region
OSGEPL1	TF binding region
ENSG00000128694	Chromatin interaction
ENSG00000253559	Chromatin interaction
ENSG00000128699	Chromatin interaction
ENSG00000273240	Chromatin interaction
ENSG00000064933	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs16831821	0.81[EUR][1000 genomes]
rs16831873	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16831944	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16831972	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17271246	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2164830	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2278591	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2289405	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56137655	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56324258	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5742926	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5742985	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5743047	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5743077	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62183651	0.83[EUR][1000 genomes]
rs62183652	0.83[EUR][1000 genomes]
rs62183653	0.83[EUR][1000 genomes]
rs62183656	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62183658	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62183659	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62184265	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62184267	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62184285	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62185869	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62185872	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62185874	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62185897	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6748102	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72920421	0.83[EUR][1000 genomes]

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs62184268	ORMDL1	cis	Skin Sun Exposed Lower leg	GTEx
rs62184268	ORMDL1	cis	Muscle Skeletal	GTEx
rs62184268	PMS1	Cis_1M	lymphoblastoid	RTeQTL
rs62184268	ORMDL1	Cis_1M	lymphoblastoid	RTeQTL

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	chr2:190628600-190632800	Weak transcription	Brain Anterior Caudate	brain
23	chr2:190628600-190632800	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr2:190628600-190634600	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr2:190628600-190634600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr2:190628600-190634600	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr2:190628600-190634800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr2:190628600-190634800	Weak transcription	HUVEC	blood vessel
29	chr2:190628600-190635400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr2:190628600-190635400	Weak transcription	Aorta	Aorta
31	chr2:190628600-190635800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr2:190628600-190635800	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr2:190628600-190636200	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr2:190628600-190637200	Weak transcription	Fetal Kidney	kidney
35	chr2:190628600-190637600	Weak transcription	Fetal Brain Female	brain
36	chr2:190628600-190638800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr2:190628600-190638800	Weak transcription	Brain Cingulate Gyrus	brain
38	chr2:190628600-190642800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr2:190628600-190642800	Weak transcription	Fetal Intestine Small	intestine
40	chr2:190628600-190642800	Weak transcription	Thymus	Thymus
41	chr2:190628600-190647000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr2:190628600-190647200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr2:190628600-190647200	Weak transcription	Stomach Mucosa	stomach
44	chr2:190628600-190648400	Weak transcription	Small Intestine	intestine
45	chr2:190628800-190634600	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr2:190628800-190634600	Weak transcription	K562	blood
47	chr2:190628800-190634800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr2:190628800-190635000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr2:190628800-190635400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr2:190628800-190635400	Weak transcription	Colon Smooth Muscle	Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links