Variant report

Variant	esv13471
Chromosome Location	chr9:43465956-43487213
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181707257	chr9:43468455-43468456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs587771833	chr9:43468480-43468481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs587649929	chr9:43468491-43468492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs7046798	chr9:43468539-43468540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs587767010	chr9:43468543-43468544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs587636996	chr9:43468564-43468565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs587722990	chr9:43468565-43468566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs186677753	chr9:43468567-43468568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs587657160	chr9:43468576-43468577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs587714448	chr9:43468600-43468601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs587612791	chr9:43468601-43468602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs191038205	chr9:43468611-43468612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs375889574	chr9:43468618-43468619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs587605950	chr9:43468626-43468627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs587653646	chr9:43468632-43468633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs145416025	chr9:43468638-43468639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs141921760	chr9:43468691-43468692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs587741207	chr9:43468717-43468718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs587689271	chr9:43468748-43468749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs377678847	chr9:43468749-43468750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs587635837	chr9:43468766-43468767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs587694911	chr9:43468790-43468791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs191587687	chr9:43474478-43474479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs587735616	chr9:43474569-43474570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs587629687	chr9:43474575-43474576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs2491531	chr9:43474629-43474630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs182989184	chr9:43474649-43474650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs187528606	chr9:43474718-43474719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs192000238	chr9:43474756-43474757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs587600726	chr9:43474757-43474758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs184982984	chr9:43474769-43474770	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
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
Oral squamous cell carcinoma	17134496	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Cancer	20164919	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	22183965	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Oral cancer	21386901	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	20409316	CNVD
early-passage human iPS cells	21368824	CNVD
Schizophrenia	21346763	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	21990379	CNVD
Astrocytoma	22246337	CNVD
Lung adenocarcinoma	17086460	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:43468400-43468800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr9:43468600-43468800	Enhancers	Fetal Brain Male	brain
3	chr9:43474400-43474800	Enhancers	A549	lung

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