Variant report

Variant	esv3460145
Chromosome Location	chr2:74027944-74035942
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-STAMBP-3	chr2:74028839-74029096	expReg_chr2_5950_+

Extended variants
information (count: 18 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187970689	chr2:74035025-74035026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs192395974	chr2:74035030-74035031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs13383097	chr2:74035031-74035032	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs572316354	chr2:74035060-74035061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs542425295	chr2:74035092-74035093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs554365913	chr2:74035102-74035103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs375420940	chr2:74035107-74035108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs184837279	chr2:74035108-74035109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs141285925	chr2:74035111-74035112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs143299722	chr2:74035120-74035121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs532060139	chr2:74035132-74035133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs541025527	chr2:74035134-74035135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs529306683	chr2:74035146-74035147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs559753503	chr2:74035154-74035155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs547907566	chr2:74035163-74035164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs189268459	chr2:74035182-74035183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs181578987	chr2:74035188-74035189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs531009903	chr2:74035189-74035190	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Lung cancer	18438408	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
Developmental delay	21147756	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Hepatocellular carcinoma	16750200	CNVD
Renal cell carcinoma	18765545	CNVD
Myxofibrosarcoma	16751306	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74035000-74035200	Enhancers	GM12878-XiMat	blood

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