Variant report

Variant	esv3500948
Chromosome Location	chr9:94148161-94148499
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	chr9:94145262..94147906-chr9:94148347..94150501,2	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541183721	chr9:94148170-94148171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs558793295	chr9:94148180-94148181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs189228681	chr9:94148185-94148186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs376598846	chr9:94148254-94148255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs146308026	chr9:94148331-94148332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs370671956	chr9:94148343-94148344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs181200915	chr9:94148351-94148352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs112613491	chr9:94148372-94148373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs553364399	chr9:94148382-94148383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs139063472	chr9:94148412-94148413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs370216604	chr9:94148415-94148416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs542752338	chr9:94148445-94148446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs79831899	chr9:94148460-94148461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs149358512	chr9:94148465-94148466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs576219266	chr9:94148466-94148467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs543656078	chr9:94148467-94148468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs534046439	chr9:94148468-94148469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs565148856	chr9:94148470-94148471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs10991915	chr9:94148471-94148472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs76151707	chr9:94148474-94148475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs143702426	chr9:94148477-94148478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs186666465	chr9:94148478-94148479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs2482364	chr9:94148481-94148482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs148124666	chr9:94148482-94148483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs74444129	chr9:94148486-94148487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs559746052	chr9:94148490-94148491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs530117252	chr9:94148494-94148495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Biliary cancer	19435499	CNVD
small cell lung cancer	20016488	CNVD
Intracranial aneurysm	16715129	CNVD
Cardiac fibroma	18329553	CNVD
Mental retardation	21693067	CNVD
Breast cancer	17133270	CNVD
Basal cell nevus syndrome	21572526	CNVD
Mental retardation	19951919	CNVD
Retinoblastoma	22278416	CNVD
9q22.3 microdeletion syndrome	22283845	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94142000-94153600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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