Variant report

Variant	esv3335480
Chromosome Location	chr2:142092789-142093362
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185223159	chr2:142092798-142092799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs577742816	chr2:142092806-142092807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs112080903	chr2:142092853-142092854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs371414967	chr2:142092859-142092860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs535271154	chr2:142092867-142092868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs563232222	chr2:142092881-142092882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs2683855	chr2:142092970-142092971	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs141247127	chr2:142093000-142093001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs377349498	chr2:142093002-142093003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs563740196	chr2:142093007-142093008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs577560213	chr2:142093033-142093034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs146253308	chr2:142093034-142093035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs80082821	chr2:142093037-142093038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs75502902	chr2:142093055-142093056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548823764	chr2:142093072-142093073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs190062126	chr2:142093086-142093087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs370344304	chr2:142093116-142093117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs139608798	chr2:142093155-142093156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs531241310	chr2:142093167-142093168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs551250826	chr2:142093229-142093230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs182282214	chr2:142093265-142093266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs1402475	chr2:142093266-142093267	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs187198035	chr2:142093277-142093278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs144341422	chr2:142093295-142093296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs2714197	chr2:142093312-142093313	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs62165697	chr2:142093341-142093342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs56372441	chr2:142093350-142093351	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs1402476	chr2:142093359-142093360	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:142089200-142093400	Weak transcription	Dnd41	blood

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