Variant report

Variant	esv3493234
Chromosome Location	chr2:78386346-78408462
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 284 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:284 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557940557	chr2:78386358-78386359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs190241202	chr2:78389002-78389003	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs554817922	chr2:78389009-78389010	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs574839538	chr2:78389017-78389018	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs543597680	chr2:78389024-78389025	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs562451201	chr2:78389081-78389082	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs148761968	chr2:78389086-78389087	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs576043653	chr2:78389116-78389117	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs556758909	chr2:78389133-78389134	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs544801354	chr2:78389152-78389153	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs181693513	chr2:78389159-78389160	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs527277904	chr2:78389173-78389174	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs541055697	chr2:78389179-78389180	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs186044868	chr2:78389240-78389241	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs530057976	chr2:78389244-78389245	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs375164191	chr2:78389265-78389266	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs191106236	chr2:78389321-78389322	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs569772952	chr2:78389327-78389328	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs372261093	chr2:78389328-78389329	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs547800885	chr2:78389334-78389335	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs532604397	chr2:78389364-78389365	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs183741318	chr2:78389368-78389369	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs373019792	chr2:78389401-78389402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs377574002	chr2:78389424-78389425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs566191268	chr2:78389442-78389443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs533764708	chr2:78389517-78389518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs187879456	chr2:78389564-78389565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs78455624	chr2:78389589-78389590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs534691674	chr2:78389602-78389603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs548216940	chr2:78389614-78389615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs117619134	chr2:78389620-78389621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs73616618	chr2:78389642-78389643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs116368236	chr2:78389659-78389660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs557505391	chr2:78389664-78389665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs75889921	chr2:78389673-78389674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs540061884	chr2:78389674-78389675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs79317399	chr2:78389686-78389687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs373749335	chr2:78389715-78389716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs190627107	chr2:78389741-78389742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs541018575	chr2:78389767-78389768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs527275494	chr2:78389842-78389843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs552096057	chr2:78389860-78389861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs543368069	chr2:78389878-78389879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs559014221	chr2:78389886-78389887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs538648493	chr2:78389892-78389893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs563632930	chr2:78389899-78389900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs532184657	chr2:78389901-78389902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs562659184	chr2:78390045-78390046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs142132961	chr2:78390076-78390077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs182809107	chr2:78390084-78390085	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:78385600-78386400	Enhancers	Brain Hippocampus Middle	brain
2	chr2:78389000-78389400	Active TSS	Hela-S3	cervix
3	chr2:78389000-78390200	Enhancers	HepG2	liver
4	chr2:78402600-78403400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:78402800-78403200	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr2:78402800-78403200	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr2:78403200-78408200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr2:78405000-78405200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:78408000-78408600	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr2:78408000-78408600	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr2:78408200-78408600	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr2:78408200-78408600	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr2:78408200-78408600	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr2:78408200-78408600	Enhancers	iPS-15b Cell Line	embryonic stem cell

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