Variant report

Variant	esv3426516
Chromosome Location	chr11:57817276-57821874
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 107 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:107 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201705000	chr11:57817304-57817305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs55957789	chr11:57817470-57817471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs60350756	chr11:57817594-57817595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs61904016	chr11:57817680-57817681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs28879390	chr11:57817703-57817704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs575283236	chr11:57817763-57817764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs546079862	chr11:57817764-57817765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs28853110	chr11:57817785-57817786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs371301190	chr11:57817864-57817865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs59868067	chr11:57817899-57817900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs28888418	chr11:57818090-57818091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs11518614	chr11:57818117-57818118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs80287517	chr11:57818159-57818160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs28763663	chr11:57818187-57818188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs373773363	chr11:57818235-57818236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs11512823	chr11:57818307-57818308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs28790012	chr11:57818365-57818366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs373158589	chr11:57818440-57818441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs112885742	chr11:57818551-57818552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs199536141	chr11:57818584-57818585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs61904020	chr11:57818657-57818658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs28864137	chr11:57818930-57818931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs528659456	chr11:57818932-57818933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs547146213	chr11:57818933-57818934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs28872627	chr11:57819327-57819328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs28878616	chr11:57819365-57819366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs28871686	chr11:57819374-57819375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs28807184	chr11:57819385-57819386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs28771078	chr11:57819475-57819476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs200564181	chr11:57819654-57819655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201216932	chr11:57819809-57819810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs564456261	chr11:57819823-57819824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs199784549	chr11:57820012-57820013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201518399	chr11:57820092-57820093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs35202916	chr11:57820187-57820188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs28846145	chr11:57820221-57820222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs28876388	chr11:57820396-57820397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs377587353	chr11:57820412-57820413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs28850428	chr11:57820414-57820415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs11229233	chr11:57820453-57820454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs11229234	chr11:57820475-57820476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs200942267	chr11:57820494-57820495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs36169149	chr11:57820557-57820558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs11229235	chr11:57820561-57820562	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
45	rs377265156	chr11:57820567-57820568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs371934867	chr11:57820627-57820628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs28785283	chr11:57820651-57820652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs187125773	chr11:57820653-57820654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs28760010	chr11:57820664-57820665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs375673030	chr11:57820686-57820687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Esophageal cancer	21851588	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Pituitary adenoma	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Autism	22495309	CNVD
Autism	20808228	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57813600-57825000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:57821400-57821600	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr11:57821600-57826000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr11:57821800-57825000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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