Variant report

Variant	rs62185869
Chromosome Location	chr2:190537056-190537057
allele	A/C
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	chr2:190536882-190537224	HepG2	liver:	n/a	n/a
2	POLR2A	chr2:190536047-190539158	K562	blood:	n/a	n/a
3	POLR2A	chr2:190536821-190537130	GM12891	blood:	n/a	n/a
4	POLR2A	chr2:190536887-190537435	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr2:190536948-190537079	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr2:190536147-190537247	GM12892	blood:	n/a	n/a
7	POLR2A	chr2:190536864-190537191	HepG2	liver:	n/a	n/a
8	POLR2A	chr2:190536016-190538449	HepG2	liver:	n/a	n/a
9	POLR2A	chr2:190536665-190537065	MCF-7	breast:	n/a	n/a
10	POLR2A	chr2:190536913-190537147	GM12891	blood:	n/a	n/a
11	POLR2A	chr2:190536138-190537759	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:190308372..190310331-chr2:190535454..190537876,3	MCF-7	breast:
2	chr2:190536431..190538916-chr2:190646758..190649408,2	K562	blood:

Variant related genes	Relation type
ANKAR	TF binding region
ENSG00000064933	Chromatin interaction
ENSG00000128699	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 4 )

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

rs_ID	r²[population]
rs16831821	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16831873	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16831944	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16831972	0.93[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs17271246	0.86[EUR][1000 genomes]
rs2164830	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2278591	0.93[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs2289405	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56137655	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56324258	0.85[EUR][1000 genomes]
rs5742926	0.93[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs5742985	0.87[EUR][1000 genomes]
rs5743047	0.85[EUR][1000 genomes]
rs5743077	0.81[EUR][1000 genomes]
rs62183651	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62183652	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62183653	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62183656	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62183657	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62183658	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62183659	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62184265	0.86[EUR][1000 genomes]
rs62184267	0.85[AFR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62184268	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62185872	0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62185874	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62185897	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6726636	0.83[EUR][1000 genomes]
rs72920421	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs62185869	ORMDL1	Cis_1M	lymphoblastoid	RTeQTL
rs62185869	ORMDL1	cis	Skin Sun Exposed Lower leg	GTEx
rs62185869	PMS1	Cis_1M	lymphoblastoid	RTeQTL
rs62185869	ORMDL1	cis	Muscle Skeletal	GTEx

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190527400-190537400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr2:190527400-190538400	Weak transcription	Pancreas	Pancrea
3	chr2:190527400-190538400	Weak transcription	Right Ventricle	heart
4	chr2:190527400-190538600	Weak transcription	Esophagus	oesophagus
5	chr2:190527400-190538600	Weak transcription	Gastric	stomach
6	chr2:190527400-190539000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr2:190527600-190538600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr2:190527600-190538600	Weak transcription	Spleen	Spleen
9	chr2:190527600-190539200	Weak transcription	Small Intestine	intestine
10	chr2:190527800-190538400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr2:190527800-190538400	Weak transcription	Psoas Muscle	Psoas
12	chr2:190527800-190538600	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr2:190528200-190537600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:190528200-190541600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:190528400-190537400	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr2:190528600-190538000	Weak transcription	Fetal Heart	heart
17	chr2:190528600-190539600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:190529000-190537200	Strong transcription	Placenta	Placenta
19	chr2:190529000-190537800	Strong transcription	HSMM	muscle
20	chr2:190529200-190537200	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr2:190529400-190537200	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr2:190529600-190537200	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr2:190529800-190537200	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr2:190529800-190537200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr2:190529800-190537200	Strong transcription	Fetal Intestine Large	intestine
26	chr2:190529800-190537600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr2:190530000-190537600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr2:190530000-190542800	Strong transcription	Dnd41	blood
29	chr2:190530400-190537200	Strong transcription	Duodenum Mucosa	Duodenum
30	chr2:190530400-190537200	Strong transcription	NH-A	brain
31	chr2:190530400-190537800	Strong transcription	Fetal Thymus	thymus
32	chr2:190530400-190538200	Strong transcription	Fetal Muscle Leg	muscle
33	chr2:190530600-190537200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr2:190530600-190537400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr2:190530600-190537400	Strong transcription	Primary neutrophils fromperipheralblood	blood
36	chr2:190530800-190537200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr2:190530800-190537200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr2:190530800-190537200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr2:190531000-190537200	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr2:190531000-190537200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr2:190531000-190537200	Strong transcription	HUVEC	blood vessel
42	chr2:190531000-190537800	Strong transcription	Duodenum Smooth Muscle	Duodenum
43	chr2:190531200-190537200	Strong transcription	Skeletal Muscle Female	skeletal muscle
44	chr2:190531200-190537400	Strong transcription	Brain Hippocampus Middle	brain
45	chr2:190531600-190537400	Strong transcription	Fetal Brain Female	brain
46	chr2:190532400-190538400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr2:190532600-190539000	Weak transcription	Hela-S3	cervix
48	chr2:190533200-190538600	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr2:190533200-190538800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr2:190533200-190538800	Weak transcription	Colonic Mucosa	Colon

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