Variant report

Variant	nsv824815
Chromosome Location	chr9:1200679-1201120
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	chr9:1196174..1202144-chr9:1204882..1208508,8	MCF-7	breast:
2	chr9:1199075..1201039-chr9:1246978..1249972,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 102 )

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	rs188513036	chr9:1200695-1200696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs10960363	chr9:1200703-1200704	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs535549880	chr9:1200737-1200738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs139215840	chr9:1200764-1200765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs12336853	chr9:1200771-1200772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs537469144	chr9:1200775-1200776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs868085	chr9:1200784-1200785	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs577899178	chr9:1200821-1200822	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs114844183	chr9:1200839-1200840	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs545891016	chr9:1200871-1200872	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs180891379	chr9:1200897-1200898	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs542729413	chr9:1200898-1200899	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs562877536	chr9:1200917-1200918	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs576460490	chr9:1200919-1200920	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs545120751	chr9:1200941-1200942	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs12341136	chr9:1200946-1200947	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs114085627	chr9:1201011-1201012	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs548064928	chr9:1201017-1201018	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs143331940	chr9:1201021-1201022	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs530350088	chr9:1201030-1201031	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs116873201	chr9:1201056-1201057	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568904185	chr9:1201064-1201065	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs867579	chr9:1201091-1201092	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs147525787	chr9:1201113-1201114	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Myelofibrosis	22110671	CNVD
Lynch syndrome	18415027	CNVD
Retinoblastoma	21504564	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioblastoma multiforme	22286061	CNVD
Williams-beuren syndrome	18553513	CNVD
Disorders of sex development	21048976	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
prenatal diagnosis	20453657	CNVD
Gastric cancer	16715143	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Intracranial aneurysm	16715129	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Disorders of sex development	22290220	CNVD
Glioblastoma multiforme	21080181	CNVD
Sudden cardiac death	19188705	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21952639	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
abnormal development	18461090	CNVD
Honadal dysgenesis	21048976	CNVD
Medulloblastoma	21979893	CNVD
Lung cancer	16740712	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	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
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
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Chronic myeloid leukemia	21384125	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	20531469	CNVD
XY gonadal dysgenesis	20685758	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Esophageal cancer	21851588	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:1198800-1200800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr9:1198800-1202600	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr9:1200000-1203600	Enhancers	Liver	Liver
4	chr9:1200400-1201400	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr9:1200600-1201600	Enhancers	Esophagus	oesophagus
6	chr9:1200600-1201600	Enhancers	Fetal Lung	lung
7	chr9:1200600-1201600	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr9:1200600-1201800	Enhancers	HepG2	liver
9	chr9:1200600-1202200	Enhancers	Fetal Muscle Leg	muscle
10	chr9:1200600-1202200	Enhancers	Pancreas	Pancrea
11	chr9:1200600-1203000	Enhancers	Psoas Muscle	Psoas
12	chr9:1200800-1201200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr9:1200800-1201400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr9:1201000-1201600	Enhancers	Adipose Nuclei	Adipose
15	chr9:1201000-1201600	Enhancers	Gastric	stomach
16	chr9:1201000-1202000	Enhancers	Fetal Brain Male	brain
17	chr9:1201000-1202000	Enhancers	Fetal Muscle Trunk	muscle
18	chr9:1201000-1202000	Enhancers	Lung	lung
19	chr9:1201000-1202200	Enhancers	Left Ventricle	heart

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