Variant report

Variant	esv3401330
Chromosome Location	chr2:77533669-77536217
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 124 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:124 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186001519	chr2:77533685-77533686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs114814741	chr2:77533696-77533697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs569233041	chr2:77533717-77533718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs190971892	chr2:77533718-77533719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs556064031	chr2:77533734-77533735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183250206	chr2:77533740-77533741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs544940255	chr2:77533767-77533768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs116113274	chr2:77533822-77533823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572064069	chr2:77533828-77533829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs541026194	chr2:77533836-77533837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs138991684	chr2:77533865-77533866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs367899194	chr2:77533868-77533869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs187826929	chr2:77533877-77533878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs116369460	chr2:77533894-77533895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs149162762	chr2:77533922-77533923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs80020118	chr2:77533993-77533994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189750	chr2:77533995-77533996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs446298	chr2:77534001-77534002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs376686649	chr2:77534024-77534025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs532753229	chr2:77534065-77534066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs13414828	chr2:77534088-77534089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562204164	chr2:77534133-77534134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs368409871	chr2:77534135-77534136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs369880203	chr2:77534137-77534138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs566379029	chr2:77534145-77534146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs182942724	chr2:77534150-77534151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs547406468	chr2:77534151-77534152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs187554409	chr2:77534152-77534153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs374495625	chr2:77534163-77534164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs192462501	chr2:77534170-77534171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535940222	chr2:77534171-77534172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs185657757	chr2:77534175-77534176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs371970778	chr2:77534179-77534180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs369650971	chr2:77534183-77534184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538833007	chr2:77534186-77534187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs290041	chr2:77534231-77534232	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs187845884	chr2:77534248-77534249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs192479247	chr2:77534278-77534279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs563041493	chr2:77534295-77534296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554519300	chr2:77534306-77534307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs574796229	chr2:77534321-77534322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs543514823	chr2:77534322-77534323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs369834152	chr2:77534330-77534331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs563812949	chr2:77534343-77534344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs532550281	chr2:77534366-77534367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs546415332	chr2:77534382-77534383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs184508355	chr2:77534413-77534414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs66589150	chr2:77534449-77534450	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs138990746	chr2:77534463-77534464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs375902711	chr2:77534474-77534475	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
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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Epilepsy	22083797	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:77529800-77535400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:77535400-77536400	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr2:77535400-77536600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:77535600-77536000	Enhancers	Fetal Lung	lung
5	chr2:77536000-77537600	Weak transcription	Fetal Lung	lung

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