Variant report

Variant	esv5546
Chromosome Location	chr9:104443756-104444982
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	chr9:104437852..104440174-chr9:104442279..104444495,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 67 )

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	rs545542460	chr9:104443757-104443758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs371580408	chr9:104443788-104443789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs565351652	chr9:104443809-104443810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs192223319	chr9:104443845-104443846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs376687015	chr9:104443866-104443867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183515888	chr9:104443958-104443959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs113444192	chr9:104443979-104443980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs367674277	chr9:104443980-104443981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs2417296	chr9:104444088-104444089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs369442336	chr9:104444134-104444135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs60117640	chr9:104444231-104444232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs3983720	chr9:104444307-104444308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs3962603	chr9:104444309-104444310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs3983719	chr9:104444352-104444353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs201829768	chr9:104444516-104444517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs561603570	chr9:104444697-104444698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs372180586	chr9:104444723-104444724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs139764694	chr9:104444725-104444726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs367722845	chr9:104444727-104444728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs74735880	chr9:104444798-104444799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs377195044	chr9:104444854-104444855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs1572560	chr9:104444858-104444859	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs116629549	chr9:104444866-104444867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs532119140	chr9:104444875-104444876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs552315982	chr9:104444907-104444908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs1572561	chr9:104444927-104444928	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs373948008	chr9:104444939-104444940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Breast cancer	22522925	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:104441800-104445400	Weak transcription	Fetal Lung	lung
2	chr9:104443200-104446000	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr9:104443400-104444800	Weak transcription	Fetal Brain Male	brain
4	chr9:104444800-104445000	Enhancers	Fetal Brain Male	brain

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