Variant report

Variant	esv3351741
Chromosome Location	chr2:78246944-78250342
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 133 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:133 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538683835	chr2:78246955-78246956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs10186219	chr2:78246983-78246984	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs143549067	chr2:78247040-78247041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs10186421	chr2:78247041-78247042	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs554882845	chr2:78247043-78247044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs10201069	chr2:78247084-78247085	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs537437698	chr2:78247123-78247124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201985140	chr2:78247150-78247151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs552733221	chr2:78247173-78247174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs184929396	chr2:78247280-78247281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs10188929	chr2:78247284-78247285	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs10201290	chr2:78247304-78247305	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs577523109	chr2:78247340-78247341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs538556691	chr2:78247427-78247428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs573360975	chr2:78247440-78247441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs542192205	chr2:78247455-78247456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs114562839	chr2:78247460-78247461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs557192796	chr2:78247473-78247474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs529689927	chr2:78247511-78247512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549371396	chr2:78247539-78247540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs193245603	chr2:78247547-78247548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs34243615	chr2:78247618-78247619	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs184541099	chr2:78247624-78247625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189365074	chr2:78247660-78247661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534802649	chr2:78247661-78247662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372424241	chr2:78247677-78247678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs573896376	chr2:78247741-78247742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs548544784	chr2:78247814-78247815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs375024633	chr2:78247816-78247817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs181408943	chr2:78247868-78247869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs140489982	chr2:78247896-78247897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs538065446	chr2:78247905-78247906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs150420049	chr2:78247931-78247932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs115834754	chr2:78247944-78247945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs539574960	chr2:78247964-78247965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs138237625	chr2:78247997-78247998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577822928	chr2:78247999-78248000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs142717405	chr2:78248031-78248032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs573423560	chr2:78248079-78248080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs542408443	chr2:78248092-78248093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs561901573	chr2:78248108-78248109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs575545656	chr2:78248122-78248123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs544471464	chr2:78248193-78248194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs150989136	chr2:78248208-78248209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs201975217	chr2:78248209-78248210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200052472	chr2:78248212-78248213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562967933	chr2:78248215-78248216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs540713761	chr2:78248307-78248308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs146156478	chr2:78248318-78248319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs183856623	chr2:78248353-78248354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	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
Neurodevelopmental disorder	22521361	CNVD
Lung cancer	18438408	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Renal cell carcinoma	18765545	CNVD
Myxofibrosarcoma	16751306	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Mental retardation	17124404	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Cancer	17440070	CNVD
Myelofibrosis	22110671	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Breast cancer	16272173	CNVD
Epilepsy	22083797	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Bipolar disorder	19114987	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:78243000-78253200	Weak transcription	HepG2	liver

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