Variant report

Variant	esv3322229
Chromosome Location	chr2:188792907-188794055
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	rs567505763	chr2:188792972-188792973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs548777672	chr2:188792993-188792994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs140926642	chr2:188793006-188793007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs533483523	chr2:188793011-188793012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs556687570	chr2:188793018-188793019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs199613092	chr2:188793042-188793043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs551934581	chr2:188793140-188793141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs75192925	chr2:188793215-188793216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs150962005	chr2:188793225-188793226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs13389691	chr2:188793229-188793230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs369072801	chr2:188793236-188793237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs6712733	chr2:188793238-188793239	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs139448269	chr2:188793256-188793257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs542912274	chr2:188793281-188793282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs568964352	chr2:188793332-188793333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs537430220	chr2:188793333-188793334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561629498	chr2:188793353-188793354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs575943559	chr2:188793398-188793399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543445502	chr2:188793491-188793492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549475267	chr2:188793610-188793611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564620851	chr2:188793653-188793654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs183106711	chr2:188793698-188793699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs149674086	chr2:188793743-188793744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs559086434	chr2:188793749-188793750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs11887978	chr2:188793763-188793764	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs114329222	chr2:188793837-188793838	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs557774585	chr2:188793901-188793902	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs569977405	chr2:188793916-188793917	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575216061	chr2:188793917-188793918	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531596187	chr2:188793937-188793938	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs78285307	chr2:188793951-188793952	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs145563682	chr2:188793978-188793979	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs539101550	chr2:188794051-188794052	Enhancers 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:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188790200-188799600	Weak transcription	Pancreas	Pancrea
2	chr2:188793800-188795000	Enhancers	Fetal Brain Male	brain

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