Variant report

Variant	esv3450207
Chromosome Location	chr9:15394152-15396200
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	chr9:15393231..15396045-chr9:15401354..15402871,2	MCF-7	breast:

Extended variants
information (count: 134 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:134 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551263146	chr9:15394159-15394160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs7034039	chr9:15394160-15394161	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs537027043	chr9:15394177-15394178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs114376507	chr9:15394226-15394227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs567991642	chr9:15394263-15394264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184663515	chr9:15394264-15394265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs76709331	chr9:15394274-15394275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs553135055	chr9:15394290-15394291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs2804996	chr9:15394347-15394348	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs78388392	chr9:15394359-15394360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs567066187	chr9:15394380-15394381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs556817214	chr9:15394381-15394382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs575271313	chr9:15394420-15394421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs546169715	chr9:15394451-15394452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564470027	chr9:15394480-15394481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs557627887	chr9:15394503-15394504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs540331173	chr9:15394507-15394508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs538726243	chr9:15394518-15394519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs563040399	chr9:15394593-15394594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs2804997	chr9:15394597-15394598	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs188056195	chr9:15394599-15394600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551322490	chr9:15394608-15394609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs2798707	chr9:15394640-15394641	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs530461107	chr9:15394654-15394655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs2804998	chr9:15394676-15394677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs2804999	chr9:15394678-15394679	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs534724519	chr9:15394687-15394688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs146228236	chr9:15394697-15394698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs369621863	chr9:15394715-15394716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs552614347	chr9:15394738-15394739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567943666	chr9:15394750-15394751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs535256586	chr9:15394751-15394752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs574690201	chr9:15394806-15394807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs556878407	chr9:15394810-15394811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs151004855	chr9:15394814-15394815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545735213	chr9:15394836-15394837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558145271	chr9:15394838-15394839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs573122755	chr9:15394847-15394848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs540526310	chr9:15394853-15394854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs181587763	chr9:15394875-15394876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs560047403	chr9:15394885-15394886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs371987518	chr9:15394892-15394893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372214345	chr9:15394893-15394894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs375506356	chr9:15394896-15394897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs112821882	chr9:15394901-15394902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs372415681	chr9:15394960-15394961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200755382	chr9:15394994-15394995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs374401072	chr9:15394995-15394996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs531796883	chr9:15395022-15395023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs368832447	chr9:15395035-15395036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Melanoma	18172304	CNVD
Biliary cancer	19435499	CNVD
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Chronic myeloid leukemia	21384125	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Myelodysplastic syndrome	21251322	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21611746	CNVD
Glycine encephalopathy	21572526	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	19835627	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:15388400-15394200	Enhancers	Fetal Intestine Small	intestine
2	chr9:15391400-15400800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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