Variant report

Variant	esv3339134
Chromosome Location	chr2:78418794-78420192
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 80 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:80 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77044175	chr2:78418797-78418798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs72927603	chr2:78418810-78418811	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs373347147	chr2:78418819-78418820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs138817668	chr2:78418925-78418926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs189467952	chr2:78418927-78418928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs574736459	chr2:78418932-78418933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs376800961	chr2:78418933-78418934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs5012194	chr2:78418935-78418936	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs115099861	chr2:78418951-78418952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs577636025	chr2:78418964-78418965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs72819072	chr2:78418966-78418967	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs149365497	chr2:78419121-78419122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573519566	chr2:78419125-78419126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs540766425	chr2:78419149-78419150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs567157896	chr2:78419160-78419161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs546159220	chr2:78419161-78419162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200052864	chr2:78419162-78419163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs533368633	chr2:78419172-78419173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs70956676	chr2:78419182-78419183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12997399	chr2:78419183-78419184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs13023847	chr2:78419186-78419187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs181779784	chr2:78419189-78419190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs5832320	chr2:78419202-78419203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12997410	chr2:78419203-78419204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs13023864	chr2:78419206-78419207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs13023867	chr2:78419215-78419216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs12997419	chr2:78419219-78419220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs13023874	chr2:78419237-78419238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs12997431	chr2:78419240-78419241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs113684069	chr2:78419263-78419264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs372871385	chr2:78419276-78419277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs5012193	chr2:78419283-78419284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs377269200	chr2:78419288-78419289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370920789	chr2:78419293-78419294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs375513069	chr2:78419294-78419295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534271244	chr2:78419307-78419308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555919417	chr2:78419314-78419315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs567800126	chr2:78419316-78419317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs13024085	chr2:78419317-78419318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs12997628	chr2:78419319-78419320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs549764397	chr2:78419347-78419348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs369284621	chr2:78419348-78419349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs374134651	chr2:78419350-78419351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs563407614	chr2:78419359-78419360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs377142679	chr2:78419360-78419361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs552084066	chr2:78419361-78419362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs59473427	chr2:78419377-78419378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs180847710	chr2:78419430-78419431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs548344863	chr2:78419450-78419451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs537928295	chr2:78419452-78419453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:78418600-78418800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr2:78418600-78419000	Enhancers	HepG2	liver
3	chr2:78418800-78428000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:78419000-78432400	Weak transcription	HepG2	liver

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