Variant report

Variant	esv3390406
Chromosome Location	chr2:206018407-206022605
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 191 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:191 , 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	rs190877737	chr2:206018468-206018469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs569823933	chr2:206018473-206018474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs368296064	chr2:206018518-206018519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs555260410	chr2:206018528-206018529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs370824828	chr2:206018531-206018532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs534683110	chr2:206018568-206018569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs553138334	chr2:206018583-206018584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182335517	chr2:206018624-206018625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs544649775	chr2:206018677-206018678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs572858479	chr2:206018682-206018683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187443723	chr2:206018686-206018687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576621854	chr2:206018734-206018735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs374181072	chr2:206018750-206018751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs192956891	chr2:206018791-206018792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs561943390	chr2:206018825-206018826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs577871885	chr2:206018884-206018885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs377212613	chr2:206018885-206018886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs529475743	chr2:206018935-206018936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs182834579	chr2:206018943-206018944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs117233528	chr2:206018948-206018949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs188204258	chr2:206018950-206018951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs533490837	chr2:206018957-206018958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs540560466	chr2:206019039-206019040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs192280301	chr2:206019049-206019050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs570070755	chr2:206019054-206019055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs184529868	chr2:206019056-206019057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs549284711	chr2:206019067-206019068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs567453010	chr2:206019152-206019153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs368772352	chr2:206019182-206019183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs372330505	chr2:206019208-206019209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs534775685	chr2:206019212-206019213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs553224475	chr2:206019239-206019240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571315784	chr2:206019270-206019271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538737100	chr2:206019274-206019275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs556675543	chr2:206019275-206019276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375712120	chr2:206019276-206019277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs575242779	chr2:206019300-206019301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs543737946	chr2:206019303-206019304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs555676407	chr2:206019324-206019325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs189626459	chr2:206019333-206019334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs541201342	chr2:206019340-206019341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs538914201	chr2:206019372-206019373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs192394087	chr2:206019380-206019381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs552464332	chr2:206019383-206019384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577032663	chr2:206019398-206019399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545530081	chr2:206019441-206019442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs563509306	chr2:206019450-206019451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs530966936	chr2:206019465-206019466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs184478559	chr2:206019500-206019501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs567539397	chr2:206019509-206019510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Urothelial carcinoma	21177765	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Cervical cancer	21062161	CNVD
Intracranial aneurysm	16715129	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	16573809	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Glioblastoma multiforme	22286061	CNVD
Cancer	20164920	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Non-small cell lung cancer	21829676	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:205970000-206026000	Weak transcription	HSMMtube	muscle
2	chr2:205976800-206024400	Weak transcription	Aorta	Aorta
3	chr2:205991000-206036600	Weak transcription	HSMM	muscle
4	chr2:205994600-206025800	Weak transcription	Fetal Kidney	kidney
5	chr2:206009000-206058000	Weak transcription	Fetal Intestine Small	intestine
6	chr2:206012600-206024200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:206014600-206035800	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr2:206015200-206023200	Weak transcription	Pancreas	Pancrea
9	chr2:206020400-206025400	Weak transcription	Stomach Smooth Muscle	stomach
10	chr2:206020600-206024200	Weak transcription	Adipose Nuclei	Adipose
11	chr2:206021200-206024000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr2:206021600-206053000	Weak transcription	Ovary	ovary
13	chr2:206021600-206058000	Weak transcription	Left Ventricle	heart
14	chr2:206021800-206038000	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr2:206022000-206025800	Weak transcription	Right Ventricle	heart
16	chr2:206022600-206024200	Weak transcription	Fetal Intestine Large	intestine
17	chr2:206022600-206024200	Weak transcription	Fetal Stomach	stomach

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