Variant report

Variant	esv16336
Chromosome Location	chr9:97334587-97335064
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:97333350..97335028-chr9:97336990..97339754,2	MCF-7	breast:
2	chr9:97219790..97221474-chr9:97332008..97334715,2	MCF-7	breast:
3	chr9:97333743..97336722-chr9:97359939..97362910,2	MCF-7	breast:
4	chr9:97334835..97337709-chr9:97386591..97389004,2	MCF-7	breast:
5	chr9:97332451..97335013-chr9:97342428..97345241,2	MCF-7	breast:
6	chr9:97328083..97332343-chr9:97333788..97336577,4	MCF-7	breast:

Extended variants
information (count: 24 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552616615	chr9:97334587-97334588	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs7865241	chr9:97334595-97334596	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs149084114	chr9:97334605-97334606	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs111750435	chr9:97334656-97334657	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs642035	chr9:97334657-97334658	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs529158722	chr9:97334661-97334662	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs550590338	chr9:97334674-97334675	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs781648	chr9:97334705-97334706	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs550149750	chr9:97334751-97334752	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs2406666	chr9:97334797-97334798	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs2406665	chr9:97334805-97334806	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs186662042	chr9:97334813-97334814	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs369208636	chr9:97334848-97334849	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs73531449	chr9:97334859-97334860	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs56404355	chr9:97334874-97334875	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs574705106	chr9:97334905-97334906	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs566349202	chr9:97334927-97334928	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs141155240	chr9:97334946-97334947	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs547296641	chr9:97334981-97334982	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs191271849	chr9:97334996-97334997	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs547877262	chr9:97335004-97335005	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs539989109	chr9:97335027-97335028	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575924017	chr9:97335040-97335041	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs2406664	chr9:97335041-97335042	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:72)

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
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
Microcephaly	18830227	CNVD
overgrowth syndrome	16570072	CNVD
Effusion lymphoma	18079361	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97317200-97354000	Weak transcription	Gastric	stomach
2	chr9:97325800-97339200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr9:97326800-97339200	Weak transcription	Fetal Stomach	stomach
4	chr9:97331400-97340000	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr9:97333200-97335400	Strong transcription	Skeletal Muscle Female	skeletal muscle
6	chr9:97335000-97349600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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