Variant report

Variant	nsv523768
Chromosome Location	chr9:8339606-8342540
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	chr9:8341198..8343962-chr9:8344780..8346440,2	K562	blood:

Extended variants
information (count: 174 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:174 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6477292	chr9:8339606-8339607	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs7871355	chr9:8339613-8339614	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs369920499	chr9:8339628-8339629	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs548461069	chr9:8339652-8339653	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs180973716	chr9:8339657-8339658	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs527525823	chr9:8339714-8339715	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs12339065	chr9:8339771-8339772	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs369558254	chr9:8339777-8339778	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs571731624	chr9:8339784-8339785	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs184546133	chr9:8339793-8339794	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs550567251	chr9:8339802-8339803	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs568874588	chr9:8339817-8339818	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs34436014	chr9:8339835-8339836	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs201654886	chr9:8339842-8339843	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs536237178	chr9:8339844-8339845	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs7025495	chr9:8339845-8339846	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs573437183	chr9:8339846-8339847	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs36081418	chr9:8339848-8339849	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs534437987	chr9:8339854-8339855	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs558848946	chr9:8339866-8339867	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs576892639	chr9:8339870-8339871	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs373732063	chr9:8339882-8339883	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs75936515	chr9:8339900-8339901	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs574523647	chr9:8339909-8339910	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs143227672	chr9:8339940-8339941	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs145602692	chr9:8339956-8339957	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs145586670	chr9:8339985-8339986	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs527559448	chr9:8340026-8340027	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs189067171	chr9:8340049-8340050	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs181896342	chr9:8340052-8340053	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs532481936	chr9:8340064-8340065	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs558242896	chr9:8340067-8340068	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs186107558	chr9:8340080-8340081	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs575212389	chr9:8340082-8340083	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs190661577	chr9:8340086-8340087	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs530065556	chr9:8340118-8340119	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs143618604	chr9:8340139-8340140	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs4740935	chr9:8340155-8340156	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs4742483	chr9:8340168-8340169	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs559109927	chr9:8340170-8340171	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs114789444	chr9:8340216-8340217	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs538430234	chr9:8340222-8340223	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs10976972	chr9:8340226-8340227	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs574560875	chr9:8340250-8340251	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs1392513	chr9:8340256-8340257	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs200078631	chr9:8340263-8340264	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs148055998	chr9:8340301-8340302	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs372967035	chr9:8340308-8340309	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs1392514	chr9:8340316-8340317	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs369632509	chr9:8340321-8340322	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:114)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Intracranial aneurysm	16715129	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Disorders of sex development	22290220	CNVD
Glioblastoma multiforme	21080181	CNVD
Sudden cardiac death	19188705	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21952639	CNVD
Disorders of sex development	21048976	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
abnormal development	18461090	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
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
Developmental delay	21147756	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
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Metastatic melanoma	18483359	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Medulloblastoma	16783165	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	21811587	CNVD
Pancreatic ductal adenocarcinoma	19077451	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:8323400-8341600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr9:8323800-8341600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr9:8324000-8345000	Weak transcription	Fetal Brain Male	brain
4	chr9:8329800-8339800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr9:8330000-8348600	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr9:8330200-8339800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr9:8330200-8339800	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr9:8330200-8340200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr9:8330200-8340400	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr9:8330200-8340800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr9:8330200-8342200	Weak transcription	Fetal Muscle Trunk	muscle
12	chr9:8330200-8364200	Weak transcription	Brain Anterior Caudate	brain
13	chr9:8330400-8340000	Weak transcription	Placenta	Placenta
14	chr9:8331400-8342000	Weak transcription	Fetal Kidney	kidney
15	chr9:8336800-8341800	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr9:8337200-8340400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr9:8337400-8340200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr9:8337400-8340200	Strong transcription	Brain Cingulate Gyrus	brain
19	chr9:8337400-8340600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr9:8337400-8340800	Strong transcription	Fetal Brain Female	brain
21	chr9:8337400-8341800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr9:8337600-8340000	Strong transcription	Cortex derived primary cultured neurospheres	brain
23	chr9:8337600-8340400	Strong transcription	Primary hematopoietic stem cells	blood
24	chr9:8338200-8339800	Strong transcription	Brain Hippocampus Middle	brain
25	chr9:8338600-8342000	Weak transcription	Dnd41	blood
26	chr9:8338800-8348600	Weak transcription	Brain Angular Gyrus	brain
27	chr9:8339000-8340600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr9:8339200-8348000	Weak transcription	Brain Substantia Nigra	brain
29	chr9:8339400-8345600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr9:8339600-8340000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr9:8339600-8340000	Weak transcription	Ovary	ovary
32	chr9:8339600-8341200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr9:8339600-8342600	Weak transcription	Fetal Lung	lung
34	chr9:8339600-8364400	Weak transcription	Brain Germinal Matrix	brain
35	chr9:8339600-8397600	Weak transcription	Fetal Muscle Leg	muscle
36	chr9:8339800-8347400	Weak transcription	Brain Hippocampus Middle	brain
37	chr9:8340000-8340200	Enhancers	Ovary	ovary
38	chr9:8340000-8346000	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr9:8340200-8340400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr9:8340200-8348000	Weak transcription	Brain Cingulate Gyrus	brain
41	chr9:8340200-8348600	Weak transcription	Ovary	ovary
42	chr9:8340200-8366400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr9:8340400-8346800	Weak transcription	Primary hematopoietic stem cells	blood
44	chr9:8340400-8364600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr9:8340600-8342400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr9:8340800-8364400	Weak transcription	Fetal Brain Female	brain
47	chr9:8341800-8372600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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