Variant report

Variant	nsv1026647
Chromosome Location	chr9:10541916-10565964
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 256 )
Associated
traits (count: 112 )

Variant overlapped rSNPs/rCNVs (count:256 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375042553	chr9:10543611-10543612	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs368905945	chr9:10543622-10543623	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs548540981	chr9:10543628-10543629	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs148662726	chr9:10543639-10543640	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs142191245	chr9:10543663-10543664	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs543939875	chr9:10543692-10543693	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs187750284	chr9:10543712-10543713	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs553321501	chr9:10543720-10543721	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs151196594	chr9:10543759-10543760	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs192316313	chr9:10543760-10543761	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs73396244	chr9:10543802-10543803	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs559976126	chr9:10543835-10543836	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs73396249	chr9:10543846-10543847	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs552326249	chr9:10543853-10543854	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs184741273	chr9:10543861-10543862	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs139735176	chr9:10543871-10543872	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs538697937	chr9:10543882-10543883	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs143714597	chr9:10543895-10543896	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs10959161	chr9:10543899-10543900	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs534140101	chr9:10543909-10543910	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs561873692	chr9:10543924-10543925	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs547850036	chr9:10543935-10543936	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs377463246	chr9:10543941-10543942	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs538443424	chr9:10543945-10543946	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs371161311	chr9:10543980-10543981	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs373538994	chr9:10543989-10543990	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs375371380	chr9:10548431-10548432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs577337376	chr9:10548442-10548443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs138062824	chr9:10548448-10548449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs558191449	chr9:10548493-10548494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs552174587	chr9:10548522-10548523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs191072286	chr9:10548533-10548534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs543805458	chr9:10548535-10548536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs554173957	chr9:10548548-10548549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs574661658	chr9:10548565-10548566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs540122709	chr9:10548571-10548572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs148869591	chr9:10548616-10548617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs369692757	chr9:10548618-10548619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs560420220	chr9:10548621-10548622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs182414474	chr9:10548684-10548685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs546018358	chr9:10548728-10548729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs568163452	chr9:10548747-10548748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs199500596	chr9:10548748-10548749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs33948585	chr9:10548749-10548750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs112186177	chr9:10548778-10548779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs185561330	chr9:10548786-10548787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs548586927	chr9:10548797-10548798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs557108406	chr9:10555417-10555418	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs573991166	chr9:10555452-10555453	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs536515904	chr9:10555455-10555456	Bivalent Enhancer	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
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
Breast cancer	21611746	CNVD
Melanoma	22183965	CNVD
Barrett''s syndrome	19417022	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:10543600-10544000	Active TSS	Aorta	Aorta
2	chr9:10548400-10548800	Enhancers	H9 Cell Line	embryonic stem cell
3	chr9:10548400-10548800	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr9:10548400-10548800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr9:10555400-10555600	Bivalent Enhancer	Esophagus	oesophagus
6	chr9:10556800-10557600	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr9:10556800-10557600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr9:10557200-10557600	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr9:10557200-10557600	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr9:10557400-10557800	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr9:10557600-10558000	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr9:10561400-10564200	Enhancers	NHEK	skin
13	chr9:10561600-10562200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr9:10562000-10562800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr9:10562200-10562600	Enhancers	HMEC	breast
16	chr9:10562200-10563800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr9:10562600-10563000	Weak transcription	HMEC	breast
18	chr9:10562800-10563200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr9:10563000-10564200	Enhancers	HMEC	breast
20	chr9:10563200-10563600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr9:10563800-10564200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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