Variant report

Variant	esv3332011
Chromosome Location	chr2:141974269-141990959
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 208 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:208 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539955433	chr2:141974302-141974303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs300376	chr2:141974353-141974354	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs150939728	chr2:141974376-141974377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs535686089	chr2:141974379-141974380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs191948847	chr2:141974398-141974399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs542685256	chr2:141974438-141974439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs575503015	chr2:141974479-141974480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs116005110	chr2:141974526-141974527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs576285563	chr2:141974546-141974547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs184202118	chr2:141974592-141974593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs561370142	chr2:141974597-141974598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs531934019	chr2:141974598-141974599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs543993678	chr2:141974638-141974639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs140870212	chr2:141974655-141974656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs562096021	chr2:141974679-141974680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs565582852	chr2:141974693-141974694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs186598578	chr2:141974695-141974696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs550959157	chr2:141974704-141974705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs571144263	chr2:141974706-141974707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs532827546	chr2:141974718-141974719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs543721588	chr2:141974731-141974732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs547014010	chr2:141974737-141974738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs567011494	chr2:141974738-141974739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs547830436	chr2:141974740-141974741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs191381133	chr2:141974820-141974821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs146257938	chr2:141974833-141974834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs138820556	chr2:141974842-141974843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs530178511	chr2:141974856-141974857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs76770784	chr2:141974893-141974894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs557661580	chr2:141974901-141974902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs370581424	chr2:141974918-141974919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs561027139	chr2:141974977-141974978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs570011535	chr2:141975022-141975023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539884897	chr2:141975023-141975024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs553313522	chr2:141975037-141975038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs118116869	chr2:141975070-141975071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs182431947	chr2:141975084-141975085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs141293696	chr2:141975110-141975111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs562323968	chr2:141975146-141975147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs529866404	chr2:141975161-141975162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs531047114	chr2:141975174-141975175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs1402471	chr2:141975182-141975183	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs1402472	chr2:141975223-141975224	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs538383846	chr2:141975248-141975249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs146985156	chr2:141975252-141975253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs547026313	chr2:141975259-141975260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs566705973	chr2:141975298-141975299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538530391	chr2:141975323-141975324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs187071459	chr2:141975334-141975335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs193027968	chr2:141975335-141975336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:141974200-141977800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:141974400-141975000	Weak transcription	Pancreas	Pancrea
3	chr2:141975400-141976200	Weak transcription	Pancreas	Pancrea
4	chr2:141980000-141980200	Enhancers	Fetal Brain Male	brain
5	chr2:141980800-141981000	Enhancers	Fetal Brain Male	brain
6	chr2:141986200-141986600	Enhancers	Fetal Heart	heart
7	chr2:141990000-141990200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:141990400-141990800	Enhancers	Dnd41	blood

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