Variant report

Variant	esv3395386
Chromosome Location	chr2:77916044-77919042
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10170086	chr2:77918007-77918008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs547642025	chr2:77918033-77918034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs375167218	chr2:77918102-77918103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs72928045	chr2:77918104-77918105	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs187931220	chr2:77918136-77918137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs576387936	chr2:77918150-77918151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs538701298	chr2:77918171-77918172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs558900401	chr2:77918182-77918183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs572481198	chr2:77918249-77918250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs541100018	chr2:77918264-77918265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs190892995	chr2:77918314-77918315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs76724132	chr2:77918318-77918319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs140794554	chr2:77918328-77918329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs563873216	chr2:77918338-77918339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs10185229	chr2:77918355-77918356	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs74858438	chr2:77918393-77918394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs564876933	chr2:77918404-77918405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs149756072	chr2:77918433-77918434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs371266606	chr2:77918541-77918542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs542157062	chr2:77918550-77918551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs567478177	chr2:77918589-77918590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs562051362	chr2:77918598-77918599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs115208480	chr2:77918644-77918645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs182071576	chr2:77918690-77918691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs186705189	chr2:77918712-77918713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs371731260	chr2:77918747-77918748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs569890441	chr2:77918760-77918761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs192606729	chr2:77918762-77918763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs558706987	chr2:77918774-77918775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs566031765	chr2:77918809-77918810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs116742977	chr2:77918813-77918814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs554599084	chr2:77918880-77918881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs367748667	chr2:77918931-77918932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs531059907	chr2:77918945-77918946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs543650146	chr2:77918954-77918955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs557515810	chr2:77918956-77918957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs551929995	chr2:77918980-77918981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs4853333	chr2:77919015-77919016	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs72813201	chr2:77919036-77919037	Weak transcription Flanking Active TSS	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
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
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
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:77918000-77919000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr2:77918200-77918800	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr2:77918800-77919200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr2:77919000-77919400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin

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