Variant report

Variant	rs62185871
Chromosome Location	chr2:190551706-190551707
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:190546330..190550453-chr2:190551549..190554575,3	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10195109	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11885423	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12052909	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12618231	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12619808	0.90[EUR][1000 genomes]
rs12622902	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1317751	0.88[EUR][1000 genomes]
rs1550388	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1609883	0.88[EUR][1000 genomes]
rs16831925	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16831939	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16831955	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1898560	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1966729	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2264018	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2289404	0.87[EUR][1000 genomes]
rs3762545	0.90[EUR][1000 genomes]
rs3791767	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3791770	0.88[EUR][1000 genomes]
rs3791773	0.88[EUR][1000 genomes]
rs4666781	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4666783	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4667306	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55675300	0.84[AFR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55792400	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5742933	0.90[EUR][1000 genomes]
rs5742998	0.88[EUR][1000 genomes]
rs5743017	0.88[EUR][1000 genomes]
rs5743032	0.88[EUR][1000 genomes]
rs5743052	0.88[EUR][1000 genomes]
rs62184283	0.87[EUR][1000 genomes]
rs62184286	0.87[EUR][1000 genomes]
rs6434363	0.80[AFR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6434365	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6717922	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6719224	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7557519	0.83[AFR][1000 genomes];0.97[EUR][1000 genomes];0.93[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:7)

SNP	Gene	Cis/trans	Tissue	Source
rs62185871	PMS1	Cis_1M	lymphoblastoid	RTeQTL
rs62185871	ASNSD1	Cis_1M	lymphoblastoid	RTeQTL
rs62185871	ORMDL1	cis	Nerve Tibial	GTEx
rs62185871	ORMDL1	cis	Heart Left Ventricle	GTEx
rs62185871	ORMDL1	cis	Skin Sun Exposed Lower leg	GTEx
rs62185871	ORMDL1	cis	Muscle Skeletal	GTEx
rs62185871	ORMDL1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190540000-190563400	Weak transcription	Aorta	Aorta
2	chr2:190540200-190578000	Weak transcription	Fetal Brain Male	brain
3	chr2:190540400-190558400	Weak transcription	Fetal Intestine Small	intestine
4	chr2:190540400-190564200	Weak transcription	Placenta	Placenta
5	chr2:190540400-190572000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr2:190540400-190576400	Weak transcription	Fetal Muscle Trunk	muscle
7	chr2:190540800-190561000	Weak transcription	HepG2	liver
8	chr2:190540800-190562800	Weak transcription	Liver	Liver
9	chr2:190540800-190563800	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr2:190540800-190572200	Weak transcription	Stomach Smooth Muscle	stomach
11	chr2:190540800-190576400	Weak transcription	Pancreas	Pancrea
12	chr2:190540800-190592600	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr2:190540800-190611800	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr2:190540800-190618400	Weak transcription	Brain Cingulate Gyrus	brain
15	chr2:190541600-190617000	Weak transcription	Colon Smooth Muscle	Colon
16	chr2:190542800-190553400	Weak transcription	Fetal Lung	lung
17	chr2:190543400-190555800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:190543600-190575400	Weak transcription	Fetal Intestine Large	intestine
19	chr2:190543800-190558800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr2:190543800-190563200	Weak transcription	Brain Anterior Caudate	brain
21	chr2:190546200-190553400	Weak transcription	Primary B cells from cord blood	blood
22	chr2:190546200-190563200	Weak transcription	Psoas Muscle	Psoas
23	chr2:190546200-190576400	Weak transcription	Lung	lung
24	chr2:190547200-190557200	Weak transcription	Primary B cells from peripheral blood	blood
25	chr2:190548600-190553400	Weak transcription	Gastric	stomach
26	chr2:190550600-190561000	Weak transcription	Adipose Nuclei	Adipose
27	chr2:190550600-190563200	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr2:190550600-190569800	Weak transcription	Left Ventricle	heart
29	chr2:190550600-190579000	Weak transcription	Spleen	Spleen
30	chr2:190550800-190554400	Weak transcription	Small Intestine	intestine
31	chr2:190550800-190554800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr2:190550800-190556600	Weak transcription	Fetal Kidney	kidney
33	chr2:190550800-190557000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr2:190550800-190563200	Weak transcription	Osteobl	bone
35	chr2:190550800-190568200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr2:190550800-190569600	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr2:190550800-190570800	Weak transcription	Fetal Stomach	stomach
38	chr2:190550800-190571000	Weak transcription	Ovary	ovary
39	chr2:190550800-190571800	Weak transcription	NHDF-Ad	bronchial
40	chr2:190550800-190576200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr2:190550800-190576400	Weak transcription	Fetal Muscle Leg	muscle
42	chr2:190550800-190577600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr2:190550800-190578400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr2:190550800-190579000	Weak transcription	Fetal Thymus	thymus
45	chr2:190550800-190579400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr2:190550800-190591400	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr2:190550800-190617000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr2:190550800-190626800	Weak transcription	Right Ventricle	heart
49	chr2:190551000-190556800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr2:190551000-190563000	Weak transcription	Primary T cells from cord blood	blood

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