Variant report

Variant	esv3410015
Chromosome Location	chr2:62787756-62788348
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TMEM17-5	chr2:62788193-62788558	NONHSAT071020

Extended variants
information (count: 28 )
Associated
traits (count: 63 )

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	rs562945622	chr2:62787756-62787757	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs187167386	chr2:62787862-62787863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs542697443	chr2:62787863-62787864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs113356945	chr2:62787889-62787890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs116349547	chr2:62787891-62787892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs148575033	chr2:62787906-62787907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189617622	chr2:62787913-62787914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs369212662	chr2:62787924-62787925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs34545101	chr2:62787930-62787931	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs11901966	chr2:62787937-62787938	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs142813638	chr2:62787944-62787945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs369528189	chr2:62787969-62787970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs555810739	chr2:62787977-62787978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs181952906	chr2:62787981-62787982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534779527	chr2:62787984-62787985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552756768	chr2:62788001-62788002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs577465778	chr2:62788013-62788014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs185915205	chr2:62788047-62788048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs374271964	chr2:62788059-62788060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs2129506	chr2:62788079-62788080	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs2129507	chr2:62788161-62788162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs542284517	chr2:62788172-62788173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs6745484	chr2:62788206-62788207	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs190722253	chr2:62788208-62788209	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs182832177	chr2:62788236-62788237	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs565478684	chr2:62788248-62788249	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs186714360	chr2:62788291-62788292	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs533608063	chr2:62788348-62788349	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
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
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Autism	22579565	CNVD
Autism	16963482	CNVD
Autism	21750575	CNVD
idiopathic intellectual disability	16963482	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Follicular lymphoma	17699855	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:62787000-62787800	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr2:62787200-62789600	Weak transcription	HepG2	liver
3	chr2:62787800-62791600	Weak transcription	Pancreatic Islets	Pancreatic Islet

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links