Variant report

Variant	nsv441788
Chromosome Location	chr2:142255282-142257002
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565981279	chr2:142255283-142255284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs147007312	chr2:142255310-142255311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs13023434	chr2:142255316-142255317	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs34737388	chr2:142255361-142255362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs559624285	chr2:142255442-142255443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs540487230	chr2:142255513-142255514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs138238569	chr2:142255521-142255522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs537070823	chr2:142255524-142255525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs113023503	chr2:142255526-142255527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs375684598	chr2:142255527-142255528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs201704034	chr2:142255554-142255555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs557186641	chr2:142255556-142255557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs377442344	chr2:142255576-142255577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs577219686	chr2:142255748-142255749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs545970948	chr2:142255764-142255765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs371159558	chr2:142255780-142255781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs187935405	chr2:142255799-142255800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs115981746	chr2:142255811-142255812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs557442101	chr2:142255812-142255813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs72116795	chr2:142255839-142255840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs10554370	chr2:142255841-142255842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs4296374	chr2:142255873-142255874	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs202032093	chr2:142255925-142255926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs67454706	chr2:142255926-142255927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs11380332	chr2:142255932-142255933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs398060610	chr2:142255938-142255939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs376270371	chr2:142255939-142255940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs13024867	chr2:142255940-142255941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs564190132	chr2:142256009-142256010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs532267771	chr2:142256047-142256048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs191191115	chr2:142256095-142256096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs543876820	chr2:142256100-142256101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs540961132	chr2:142256122-142256123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs553146670	chr2:142256126-142256127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs79021644	chr2:142256156-142256157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs77034532	chr2:142256165-142256166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs532664437	chr2:142256167-142256168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs552493088	chr2:142256182-142256183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs7569047	chr2:142256217-142256218	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs528688973	chr2:142256279-142256280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs182992500	chr2:142256353-142256354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs112205038	chr2:142256414-142256415	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs116331283	chr2:142256488-142256489	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs537411637	chr2:142256503-142256504	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs7569388	chr2:142256511-142256512	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs7595586	chr2:142256527-142256528	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs143732849	chr2:142256555-142256556	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs553336737	chr2:142256579-142256580	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs573051517	chr2:142256598-142256599	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs371601504	chr2:142256615-142256616	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Glioblastoma multiforme	19435819	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma	21080181	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Autism	22543975	CNVD
Cancer	20164920	CNVD
Hypertension	22686481	CNVD
Hypospadia	22686481	CNVD
Intellectual disability	22686481	CNVD
Omphalocele	22686481	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:142239400-142256400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:142247800-142266200	Weak transcription	Brain Anterior Caudate	brain
3	chr2:142249600-142257600	Weak transcription	Brain Substantia Nigra	brain
4	chr2:142254200-142255600	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr2:142254400-142255400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr2:142254400-142256000	Enhancers	Dnd41	blood
7	chr2:142254600-142255400	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr2:142254800-142255400	Enhancers	Primary hematopoietic stem cells	blood
9	chr2:142254800-142255600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr2:142254800-142256200	Enhancers	Muscle Satellite Cultured Cells	--
11	chr2:142254800-142257800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr2:142255000-142255400	Enhancers	NH-A	brain
13	chr2:142255000-142256800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr2:142255400-142255600	Weak transcription	NH-A	brain
15	chr2:142255400-142256400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr2:142255400-142256600	Weak transcription	Primary hematopoietic stem cells	blood
17	chr2:142255600-142256000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr2:142255600-142256000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr2:142255600-142257000	Enhancers	NH-A	brain
20	chr2:142256000-142257000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr2:142256000-142257800	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr2:142256000-142257800	Enhancers	Fetal Heart	heart
23	chr2:142256000-142258800	Weak transcription	Dnd41	blood
24	chr2:142256200-142256400	Enhancers	Brain Hippocampus Middle	brain
25	chr2:142256400-142256600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr2:142256400-142257200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr2:142256400-142263600	Weak transcription	Brain Hippocampus Middle	brain
28	chr2:142256800-142257000	Enhancers	Primary hematopoietic stem cells	blood

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