Variant report

Variant	esv3384475
Chromosome Location	chr2:78673344-78677342
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 163 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:163 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373332476	chr2:78673394-78673395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs553364024	chr2:78673396-78673397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545637773	chr2:78673406-78673407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566504000	chr2:78673408-78673409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs535764578	chr2:78673481-78673482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs555606555	chr2:78673508-78673509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs575441309	chr2:78673547-78673548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs544744232	chr2:78673550-78673551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs137941168	chr2:78673572-78673573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs558064876	chr2:78673597-78673598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs116617173	chr2:78673600-78673601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs6722722	chr2:78673657-78673658	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs559413597	chr2:78673670-78673671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs532174174	chr2:78673694-78673695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs145439700	chr2:78673695-78673696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs528057226	chr2:78673761-78673762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs138118020	chr2:78673765-78673766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs143587873	chr2:78673771-78673772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs530825645	chr2:78673792-78673793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs550794504	chr2:78673864-78673865	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs147487617	chr2:78673957-78673958	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs533492785	chr2:78673963-78673964	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs552728887	chr2:78673999-78674000	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs546746985	chr2:78674035-78674036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs138195014	chr2:78674048-78674049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs116467217	chr2:78674052-78674053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs549267429	chr2:78674059-78674060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs569255892	chr2:78674081-78674082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs12466660	chr2:78674098-78674099	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs114986934	chr2:78674101-78674102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs149570630	chr2:78674113-78674114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs75282206	chr2:78674117-78674118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs553066909	chr2:78674119-78674120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs74898124	chr2:78674143-78674144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs541895271	chr2:78674167-78674168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs373578982	chr2:78674212-78674213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs189805244	chr2:78674214-78674215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs182709929	chr2:78674284-78674285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs185516722	chr2:78674287-78674288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs544155131	chr2:78674339-78674340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs564326154	chr2:78674351-78674352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs532946766	chr2:78674411-78674412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs62166136	chr2:78674412-78674413	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs560166277	chr2:78674413-78674414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs529343255	chr2:78674424-78674425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs190711104	chr2:78674428-78674429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs370613257	chr2:78674437-78674438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538553968	chr2:78674449-78674450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs551754563	chr2:78674516-78674517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs148808733	chr2:78674559-78674560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:78672600-78673800	Weak transcription	HepG2	liver
2	chr2:78673800-78674000	ZNF genes & repeats	HepG2	liver
3	chr2:78674000-78682800	Weak transcription	HepG2	liver
4	chr2:78676200-78676600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:78676600-78676800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:78676800-78677200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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