Variant report

Variant	nsv613303
Chromosome Location	chr9:9187539-9225463
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 478 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:478 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10977555	chr9:9187539-9187540	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs116312351	chr9:9187556-9187557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs543488958	chr9:9187575-9187576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs375062105	chr9:9187604-9187605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs73403472	chr9:9187605-9187606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs528843323	chr9:9187629-9187630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs541135886	chr9:9187633-9187634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs559155762	chr9:9187677-9187678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs527909030	chr9:9187699-9187700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs12686720	chr9:9187726-9187727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs184229857	chr9:9187767-9187768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs187560116	chr9:9187780-9187781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs5896309	chr9:9187781-9187782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs79380914	chr9:9187790-9187791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs192781661	chr9:9187799-9187800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs561553503	chr9:9192025-9192026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs530386206	chr9:9192041-9192042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs368453298	chr9:9192076-9192077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs538167940	chr9:9192115-9192116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs563109539	chr9:9192161-9192162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs142034632	chr9:9192200-9192201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs527876090	chr9:9192212-9192213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs575227005	chr9:9192222-9192223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs548398826	chr9:9192223-9192224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs374343144	chr9:9192225-9192226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs372013080	chr9:9192233-9192234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs570907507	chr9:9192234-9192235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs537998412	chr9:9192252-9192253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs139920046	chr9:9192257-9192258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs568376530	chr9:9192264-9192265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs187044379	chr9:9192266-9192267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs2166235	chr9:9192273-9192274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs554109292	chr9:9192275-9192276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs201057345	chr9:9192289-9192290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs574727062	chr9:9192299-9192300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs539630066	chr9:9192328-9192329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs149262648	chr9:9192365-9192366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs540485952	chr9:9192370-9192371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs560708431	chr9:9192372-9192373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs543169945	chr9:9192389-9192390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs79466211	chr9:9192468-9192469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs573559648	chr9:9192473-9192474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs548911746	chr9:9192493-9192494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs147384569	chr9:9192506-9192507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs560404352	chr9:9192539-9192540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs368634393	chr9:9192572-9192573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs577469373	chr9:9192573-9192574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs190929566	chr9:9192578-9192579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs564544556	chr9:9192623-9192624	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs531794249	chr9:9192652-9192653	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:110)

Disease	PMID	Source
abnormal development	18461090	CNVD
Disorders of sex development	21048976	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
Oral squamous cell carcinoma	17134496	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Glioblastoma multiforme	21080181	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
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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
XY gonadal dysgenesis	20685758	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Intellectual disability	22102821	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
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Lung cancer	20668451	CNVD
Schizophrenia	20838587	CNVD
Glioblastoma	18772890	CNVD
Glioblastoma multiforme	21390271	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	21764851	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Gastric cancer	16891809	CNVD
Mental retardation	17847001	CNVD
Cutaneous squamous cell carcinomas	17420988	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Acute myeloid leukemia	21251322	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:9187400-9187800	Enhancers	Fetal Brain Female	brain
2	chr9:9192000-9192600	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr9:9192600-9193200	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr9:9199400-9199600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr9:9199800-9202200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr9:9200000-9200600	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr9:9200000-9200800	Enhancers	H1 Cell Line	embryonic stem cell
8	chr9:9200000-9200800	Enhancers	Brain Substantia Nigra	brain
9	chr9:9200400-9200800	Enhancers	Brain Hippocampus Middle	brain
10	chr9:9200400-9201000	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr9:9200800-9202200	Enhancers	Fetal Kidney	kidney
12	chr9:9201000-9201400	Enhancers	Fetal Lung	lung
13	chr9:9214000-9215000	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr9:9214000-9215200	Enhancers	Fetal Kidney	kidney
15	chr9:9214000-9215200	Enhancers	Fetal Lung	lung
16	chr9:9214000-9215400	Enhancers	Stomach Mucosa	stomach
17	chr9:9215200-9218800	Weak transcription	Fetal Lung	lung
18	chr9:9216800-9217400	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr9:9217000-9217400	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr9:9218800-9219000	Enhancers	Fetal Lung	lung
21	chr9:9219000-9219400	Weak transcription	Fetal Lung	lung
22	chr9:9219400-9219800	Enhancers	Fetal Lung	lung
23	chr9:9225400-9225600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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