Variant report

Variant	esv3371302
Chromosome Location	chr2:188790640-188791511
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs60103730	chr2:188790648-188790649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs189021415	chr2:188790663-188790664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs143275836	chr2:188790665-188790666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs150528927	chr2:188790666-188790667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs533101707	chr2:188790671-188790672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs193150026	chr2:188790683-188790684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs35499611	chr2:188790691-188790692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs397974820	chr2:188790692-188790693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs540289747	chr2:188790714-188790715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs546490391	chr2:188790721-188790722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs142819014	chr2:188790771-188790772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs184261204	chr2:188790778-188790779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs189083311	chr2:188790798-188790799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs116362734	chr2:188790820-188790821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs12620820	chr2:188790884-188790885	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs552121814	chr2:188791005-188791006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs192169231	chr2:188791029-188791030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs114871779	chr2:188791083-188791084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs113503278	chr2:188791140-188791141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs146094205	chr2:188791227-188791228	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs189589953	chr2:188791328-188791329	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs556115036	chr2:188791346-188791347	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs571131073	chr2:188791375-188791376	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs115858165	chr2:188791433-188791434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs374859849	chr2:188791443-188791444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs10931318	chr2:188791462-188791463	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs567721623	chr2:188791464-188791465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs148446998	chr2:188791501-188791502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200472033	chr2:188791502-188791503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs200854549	chr2:188791503-188791504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs55758415	chr2:188791504-188791505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs113576962	chr2:188791505-188791506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs56386332	chr2:188791510-188791511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:49)

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
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	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
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD
Urothelial carcinoma	21177765	CNVD
Intellectual disability	22102821	CNVD
Tetralogy of Fallot	22912587	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188789800-188791200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr2:188790200-188799600	Weak transcription	Pancreas	Pancrea
3	chr2:188791200-188791400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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