Variant report

Variant	nsv1024452
Chromosome Location	chr9:9339770-9355896
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	chr9:9353280..9355692-chr9:9355746..9358583,2	K562	blood:
2	chr9:9353280..9355692-chr9:9355746..9358583,2	K562	blood:

Extended variants
information (count: 235 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:235 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538184472	chr9:9339796-9339797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs2225596	chr9:9339871-9339872	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs182236031	chr9:9339882-9339883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs575432330	chr9:9339886-9339887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs113254151	chr9:9339891-9339892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184414054	chr9:9339944-9339945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572462406	chr9:9339958-9339959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs539854327	chr9:9339975-9339976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs557067170	chr9:9340019-9340020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs188220106	chr9:9340054-9340055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs73390900	chr9:9340068-9340069	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs181094830	chr9:9340080-9340081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs115935653	chr9:9340081-9340082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs531176125	chr9:9340101-9340102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs1412881	chr9:9340127-9340128	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs567769696	chr9:9340145-9340146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs79710265	chr9:9340155-9340156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs546700092	chr9:9340197-9340198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs571644393	chr9:9340198-9340199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs566218251	chr9:9340231-9340232	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs538542470	chr9:9340239-9340240	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs149746476	chr9:9340248-9340249	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575096056	chr9:9340249-9340250	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs536044445	chr9:9340253-9340254	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs77443183	chr9:9340255-9340256	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572622184	chr9:9340261-9340262	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs139659544	chr9:9340276-9340277	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs145259881	chr9:9340338-9340339	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs74921748	chr9:9340345-9340346	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs147899115	chr9:9340397-9340398	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs369602178	chr9:9340409-9340410	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs564057238	chr9:9340419-9340420	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs573089663	chr9:9340425-9340426	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs185510417	chr9:9340475-9340476	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs79072288	chr9:9340480-9340481	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs190264804	chr9:9340490-9340491	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs528567661	chr9:9340514-9340515	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547084971	chr9:9340542-9340543	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs148959101	chr9:9340566-9340567	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs72698856	chr9:9340587-9340588	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs4742585	chr9:9340617-9340618	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs181853266	chr9:9340618-9340619	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs533127300	chr9:9340633-9340634	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536020850	chr9:9340634-9340635	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554318724	chr9:9340644-9340645	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566347459	chr9:9340659-9340660	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs533613288	chr9:9340670-9340671	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs376507907	chr9:9340674-9340675	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs9408761	chr9:9340687-9340688	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs1333122	chr9:9340698-9340699	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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	chr9:9331200-9340000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr9:9332400-9341200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr9:9333400-9340200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr9:9340000-9340200	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr9:9340000-9340800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr9:9340000-9341600	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr9:9340200-9341000	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr9:9340200-9341600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr9:9340400-9341800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr9:9340800-9341400	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr9:9340800-9341800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr9:9341200-9341400	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr9:9341200-9341600	Enhancers	Brain Cingulate Gyrus	brain
14	chr9:9341200-9341600	Enhancers	Brain Germinal Matrix	brain
15	chr9:9341200-9341600	Enhancers	Brain Hippocampus Middle	brain
16	chr9:9341200-9341600	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr9:9341200-9341800	Enhancers	Brain Substantia Nigra	brain
18	chr9:9341400-9341600	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr9:9341400-9341800	Enhancers	Brain Anterior Caudate	brain
20	chr9:9350000-9350400	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr9:9351200-9351600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr9:9351600-9352600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr9:9352600-9352800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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