Variant report

Variant	nsv973439
Chromosome Location	chr9:8406003-8408876
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 144 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:144 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1500336	chr9:8406003-8406004	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs34342765	chr9:8406029-8406030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs12006491	chr9:8406074-8406075	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs568671686	chr9:8406084-8406085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs536033257	chr9:8406127-8406128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs374269735	chr9:8406130-8406131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs553954418	chr9:8406143-8406144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs539147922	chr9:8406148-8406149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs192297595	chr9:8406153-8406154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs185790433	chr9:8406201-8406202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs576281242	chr9:8406264-8406265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs543669137	chr9:8406271-8406272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs1909759	chr9:8406282-8406283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs555357967	chr9:8406283-8406284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs139663663	chr9:8406286-8406287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs189259628	chr9:8406297-8406298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557955026	chr9:8406300-8406301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs10977055	chr9:8406306-8406307	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs527740887	chr9:8406317-8406318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs79852059	chr9:8406340-8406341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564469334	chr9:8406341-8406342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs531589826	chr9:8406382-8406383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs17561379	chr9:8406407-8406408	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs200629173	chr9:8406412-8406413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs13283749	chr9:8406433-8406434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs13287884	chr9:8406435-8406436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs560218186	chr9:8406505-8406506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs562238072	chr9:8406562-8406563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs185950988	chr9:8406569-8406570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs188752760	chr9:8406602-8406603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs565783118	chr9:8406608-8406609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs13288222	chr9:8406633-8406634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs13302169	chr9:8406634-8406635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs532091591	chr9:8406642-8406643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs374444166	chr9:8406686-8406687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181570914	chr9:8406707-8406708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs536620610	chr9:8406789-8406790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs76854939	chr9:8406803-8406804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs371347969	chr9:8406807-8406808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs534521652	chr9:8406838-8406839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs552704428	chr9:8406840-8406841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs572232367	chr9:8406845-8406846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs186338621	chr9:8406925-8406926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs540974302	chr9:8406961-8406962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191144446	chr9:8406995-8406996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs77163325	chr9:8406996-8406997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs531494325	chr9:8407018-8407019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs576427702	chr9:8407083-8407084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs543441619	chr9:8407089-8407090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs375918527	chr9:8407107-8407108	Weak 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:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:8377800-8406400	Weak transcription	Fetal Brain Female	brain
2	chr9:8389600-8451000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr9:8394000-8424400	Weak transcription	Fetal Lung	lung
4	chr9:8396000-8410400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr9:8402000-8408000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr9:8402200-8407400	Weak transcription	Brain Angular Gyrus	brain
7	chr9:8402400-8407600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr9:8402400-8407600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr9:8402400-8407800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr9:8402400-8407800	Weak transcription	Brain Substantia Nigra	brain
11	chr9:8402400-8408400	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr9:8402400-8408600	Weak transcription	Brain Germinal Matrix	brain
13	chr9:8402400-8421000	Weak transcription	Brain Hippocampus Middle	brain
14	chr9:8402600-8407600	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr9:8402600-8408600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr9:8402600-8448800	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr9:8402800-8438000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr9:8403200-8407600	Weak transcription	Brain Cingulate Gyrus	brain
19	chr9:8403400-8408000	Weak transcription	Brain Anterior Caudate	brain
20	chr9:8405800-8438000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr9:8407400-8408200	Enhancers	Brain Angular Gyrus	brain
22	chr9:8407600-8407800	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr9:8407600-8408200	Enhancers	Brain Cingulate Gyrus	brain
24	chr9:8407600-8408400	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr9:8407600-8410800	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr9:8407600-8410800	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr9:8407800-8408200	Enhancers	Brain Substantia Nigra	brain
28	chr9:8407800-8410600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr9:8407800-8414600	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr9:8408000-8408800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
31	chr9:8408000-8408800	Enhancers	Brain Anterior Caudate	brain
32	chr9:8408000-8410600	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr9:8408200-8408400	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr9:8408200-8408800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
35	chr9:8408200-8409400	Weak transcription	Brain Angular Gyrus	brain
36	chr9:8408200-8409800	Weak transcription	Brain Substantia Nigra	brain
37	chr9:8408200-8429200	Weak transcription	Brain Cingulate Gyrus	brain
38	chr9:8408400-8408600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
39	chr9:8408400-8408800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
40	chr9:8408400-8409200	Enhancers	Dnd41	blood
41	chr9:8408400-8410400	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr9:8408400-8410600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr9:8408600-8409400	Enhancers	H9 Cell Line	embryonic stem cell
44	chr9:8408600-8409400	Enhancers	Fetal Thymus	thymus
45	chr9:8408600-8410600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr9:8408600-8410600	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr9:8408600-8410600	Enhancers	Brain Germinal Matrix	brain
48	chr9:8408800-8409200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr9:8408800-8409800	Weak transcription	Brain Anterior Caudate	brain
50	chr9:8408800-8410600	Enhancers	ES-I3 Cell Line	embryonic stem cell

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