Variant report

Variant	nsv466150
Chromosome Location	chr9:9945648-9970203
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 831 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:831 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10978121	chr9:9945648-9945649	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs116969485	chr9:9945654-9945655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs371530321	chr9:9945656-9945657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs192799178	chr9:9945688-9945689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs73402689	chr9:9945689-9945690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs374553136	chr9:9945702-9945703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs527503541	chr9:9945713-9945714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs184696284	chr9:9945723-9945724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs367837710	chr9:9945788-9945789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs540696319	chr9:9945797-9945798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs546346458	chr9:9945817-9945818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566586572	chr9:9945819-9945820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs560771205	chr9:9945826-9945827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs538411307	chr9:9945879-9945880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552413201	chr9:9945880-9945881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs569164770	chr9:9945892-9945893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs370224805	chr9:9945960-9945961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs74558707	chr9:9945974-9945975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs574773451	chr9:9945980-9945981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs534213279	chr9:9946010-9946011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs144887772	chr9:9946017-9946018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188777352	chr9:9946033-9946034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200947590	chr9:9946045-9946046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs139387979	chr9:9946057-9946058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs58290396	chr9:9946069-9946070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs10978122	chr9:9946070-9946071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs10978123	chr9:9946076-9946077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs368983639	chr9:9946084-9946085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs546037805	chr9:9946108-9946109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs562781423	chr9:9946154-9946155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs576322965	chr9:9946156-9946157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs368042068	chr9:9946165-9946166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs542142870	chr9:9946173-9946174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs191844714	chr9:9946174-9946175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529631942	chr9:9946188-9946189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs77294670	chr9:9946211-9946212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs560040853	chr9:9946230-9946231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs559954276	chr9:9946245-9946246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs144616428	chr9:9946275-9946276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs146745938	chr9:9946291-9946292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs560553007	chr9:9946304-9946305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs569102565	chr9:9946308-9946309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538122961	chr9:9946310-9946311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs184395367	chr9:9946311-9946312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs77594045	chr9:9946340-9946341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs371962352	chr9:9946344-9946345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs77803412	chr9:9946352-9946353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs189101853	chr9:9946368-9946369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs556315782	chr9:9946379-9946380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs576260483	chr9:9946381-9946382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:114)

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
Lung adenocarcinoma	17982442	CNVD
Breast cancer	21611746	CNVD
Schizophrenia	23813976	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:9943600-9949600	Weak transcription	Fetal Heart	heart
2	chr9:9946400-9946800	Enhancers	Fetal Brain Male	brain
3	chr9:9949600-9949800	Active TSS	Fetal Heart	heart
4	chr9:9949600-9950400	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr9:9949800-9950000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr9:9949800-9950400	Flanking Active TSS	Fetal Heart	heart
7	chr9:9950000-9950400	Enhancers	Left Ventricle	heart
8	chr9:9950000-9951400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr9:9950000-9952400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr9:9950400-9950800	Enhancers	Fetal Heart	heart
11	chr9:9950800-9951200	Flanking Active TSS	Fetal Heart	heart
12	chr9:9950800-9952600	Enhancers	Primary hematopoietic stem cells	blood
13	chr9:9951200-9954200	Enhancers	Fetal Heart	heart
14	chr9:9951400-9951800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr9:9951800-9952200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr9:9962200-9962600	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr9:9963200-9963600	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr9:9965000-9965400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr9:9965200-9967800	Enhancers	Fetal Heart	heart
20	chr9:9969600-9970000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr9:9970000-9972800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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