Variant report

Variant	esv3433984
Chromosome Location	chr9:104606687-104607027
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 66 )

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	rs530169325	chr9:104606713-104606714	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs549957891	chr9:104606720-104606721	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs4742830	chr9:104606728-104606729	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs1337688	chr9:104606734-104606735	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552545722	chr9:104606736-104606737	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs144530911	chr9:104606746-104606747	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs577335106	chr9:104606747-104606748	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs10819999	chr9:104606759-104606760	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs568139371	chr9:104606804-104606805	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs537191604	chr9:104606806-104606807	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553654784	chr9:104606826-104606827	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs557185594	chr9:104606846-104606847	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs572282851	chr9:104606850-104606851	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs112149860	chr9:104606863-104606864	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs570620021	chr9:104606864-104606865	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs539624987	chr9:104606884-104606885	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs552966352	chr9:104606899-104606900	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs185907903	chr9:104606913-104606914	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562879409	chr9:104606920-104606921	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs370773784	chr9:104606934-104606935	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs541054345	chr9:104606944-104606945	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs57226682	chr9:104606954-104606955	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530207268	chr9:104606965-104606966	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs574580540	chr9:104606973-104606974	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
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
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Fukuyama congenital muscular dystrophy	21572526	CNVD
Testicular germ cell tumor	18059402	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Mantle cell lymphoma	19029149	CNVD
Intracranial aneurysm	16715129	CNVD
Neuroblastoma	20406844	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:104604200-104610200	Weak transcription	K562	blood
2	chr9:104606600-104607200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr9:104606800-104607400	Enhancers	iPS-18 Cell Line	embryonic stem cell

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