Variant report

Variant	nsv416839
Chromosome Location	chr9:18578658-18579517
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12003196	chr9:18578658-18578659	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs545710985	chr9:18578672-18578673	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs112460272	chr9:18578675-18578676	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs7389198	chr9:18578689-18578690	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs55746309	chr9:18578700-18578701	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs368155162	chr9:18578758-18578759	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs371676571	chr9:18578797-18578798	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs10963647	chr9:18578807-18578808	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs58881364	chr9:18578820-18578821	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs372223400	chr9:18578821-18578822	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs530718494	chr9:18578836-18578837	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs376505871	chr9:18578850-18578851	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs368439149	chr9:18578866-18578867	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs552370298	chr9:18578883-18578884	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs377297130	chr9:18578886-18578887	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs532620196	chr9:18578898-18578899	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs547848134	chr9:18578932-18578933	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200327575	chr9:18578936-18578937	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs12342110	chr9:18579001-18579002	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs536590995	chr9:18579003-18579004	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs548854856	chr9:18579005-18579006	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187478585	chr9:18579030-18579031	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs545841430	chr9:18579049-18579050	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs139716973	chr9:18579056-18579057	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs558699049	chr9:18579057-18579058	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs576544887	chr9:18579073-18579074	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs183184885	chr9:18579163-18579164	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs187512304	chr9:18579285-18579286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552720923	chr9:18579298-18579299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs574369081	chr9:18579302-18579303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs541797231	chr9:18579306-18579307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs562950075	chr9:18579412-18579413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs34824201	chr9:18579417-18579418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs552123656	chr9:18579462-18579463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200531330	chr9:18579494-18579495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs374573865	chr9:18579501-18579502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs546038403	chr9:18579505-18579506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564259949	chr9:18579516-18579517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
abnormal development	18461090	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Melanoma	18172304	CNVD
Biliary cancer	19435499	CNVD
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
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	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
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Chronic myeloid leukemia	21384125	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Myelodysplastic syndrome	21251322	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	18803288	CNVD
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Glycine encephalopathy	21572526	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Cancer	22183965	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Melanoma	20877625	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:18564400-18591800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr9:18566800-18579600	Weak transcription	HSMMtube	muscle
3	chr9:18567000-18579600	Weak transcription	HUVEC	blood vessel
4	chr9:18569600-18580200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr9:18569800-18601000	Weak transcription	NHLF	lung
6	chr9:18570200-18583200	Weak transcription	Fetal Stomach	stomach
7	chr9:18570200-18591800	Weak transcription	Aorta	Aorta
8	chr9:18571800-18579200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr9:18573200-18579000	Strong transcription	HSMM	muscle
10	chr9:18574400-18581600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr9:18575000-18581000	Weak transcription	NHDF-Ad	bronchial
12	chr9:18575400-18581600	Weak transcription	NH-A	brain
13	chr9:18576000-18579600	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr9:18576400-18579600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr9:18578000-18578800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr9:18578600-18579600	Weak transcription	Osteobl	bone
17	chr9:18578800-18582000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr9:18579000-18579600	Weak transcription	HSMM	muscle
19	chr9:18579200-18579600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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