Variant report

Variant	esv3442778
Chromosome Location	chr9:85281757-85283980
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:85278816..85281759-chr9:85299127..85301307,2	MCF-7	breast:
2	chr9:85282511..85284570-chr9:85285371..85288222,2	MCF-7	breast:

Extended variants
information (count: 37 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529697442	chr9:85283031-85283032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs548165500	chr9:85283092-85283093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs566657489	chr9:85283111-85283112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs544356212	chr9:85283157-85283158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs564241044	chr9:85283168-85283169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs527540061	chr9:85283169-85283170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs551967938	chr9:85283177-85283178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs570282294	chr9:85283277-85283278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs537625832	chr9:85283342-85283343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs533236290	chr9:85283389-85283390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs557064790	chr9:85283456-85283457	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs7846939	chr9:85283474-85283475	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs111924879	chr9:85283498-85283499	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs112754670	chr9:85283507-85283508	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs62579073	chr9:85283523-85283524	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs573476011	chr9:85283589-85283590	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs540894646	chr9:85283622-85283623	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs559274054	chr9:85283650-85283651	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs113351054	chr9:85283653-85283654	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561698871	chr9:85283656-85283657	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs544811607	chr9:85283657-85283658	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562620230	chr9:85283661-85283662	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs185190701	chr9:85283662-85283663	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs142029230	chr9:85283674-85283675	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560059959	chr9:85283679-85283680	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs546094119	chr9:85283752-85283753	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs527611912	chr9:85283756-85283757	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs190780661	chr9:85283818-85283819	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572393615	chr9:85283826-85283827	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs117578058	chr9:85283894-85283895	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs564022702	chr9:85283906-85283907	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs531440535	chr9:85283927-85283928	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs549559172	chr9:85283932-85283933	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs11139680	chr9:85283933-85283934	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs536719905	chr9:85283963-85283964	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs548317052	chr9:85283965-85283966	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs566888411	chr9:85283969-85283970	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Leukemia	18688285	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Bipolar disorder	18458673	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Urothelial cell carcinoma	18451213	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Renal cell carcinoma	18765545	CNVD
Astrocytoma	22246337	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:85283000-85283400	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr9:85283000-85284000	Enhancers	Fetal Lung	lung
3	chr9:85283200-85284000	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr9:85283200-85284400	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr9:85283400-85284200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr9:85283400-85288400	Weak transcription	Pancreatic Islets	Pancreatic Islet

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