Variant report

Variant	nsv824848
Chromosome Location	chr9:9516912-9517972
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 112 )

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371026748	chr9:9516935-9516936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs551404919	chr9:9516960-9516961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs571488447	chr9:9516962-9516963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556582225	chr9:9516986-9516987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs188049565	chr9:9516991-9516992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs7034573	chr9:9517017-9517018	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs78343408	chr9:9517031-9517032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs572657270	chr9:9517040-9517041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs546343892	chr9:9517079-9517080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs564541301	chr9:9517110-9517111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs75221869	chr9:9517136-9517137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs682272	chr9:9517170-9517171	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs10977832	chr9:9517208-9517209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs529290871	chr9:9517215-9517216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs191260873	chr9:9517218-9517219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs529220099	chr9:9517237-9517238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs10977833	chr9:9517290-9517291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs145703620	chr9:9517311-9517312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs570202758	chr9:9517323-9517324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs16929647	chr9:9517332-9517333	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs551070205	chr9:9517350-9517351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs569365675	chr9:9517363-9517364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530518573	chr9:9517380-9517381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs672211	chr9:9517393-9517394	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs148930980	chr9:9517418-9517419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs536177187	chr9:9517420-9517421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs554144612	chr9:9517436-9517437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs183877725	chr9:9517445-9517446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs118024291	chr9:9517454-9517455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs540001588	chr9:9517459-9517460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558378134	chr9:9517469-9517470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541578872	chr9:9517566-9517567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs189440474	chr9:9517590-9517591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs181241067	chr9:9517602-9517603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs376573658	chr9:9517640-9517641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs576960499	chr9:9517656-9517657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs147101469	chr9:9517699-9517700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs370860294	chr9:9517708-9517709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184891257	chr9:9517749-9517750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs559181103	chr9:9517763-9517764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs532963403	chr9:9517884-9517885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs10977834	chr9:9517904-9517905	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs544851499	chr9:9517906-9517907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs563133956	chr9:9517921-9517922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs530555708	chr9:9517946-9517947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs147750306	chr9:9517948-9517949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs567278256	chr9:9517967-9517968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs142498791	chr9:9517969-9517970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs537831254	chr9:9517971-9517972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:112)

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
Autism	20531469	CNVD
Lung adenocarcinoma	17982442	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:9514400-9518200	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr9:9514400-9519200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr9:9514600-9520400	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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