Variant report

Variant	nsv613288
Chromosome Location	chr9:8447732-8454566
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 358 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:358 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2890795	chr9:8447732-8447733	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs141064397	chr9:8447738-8447739	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs372719003	chr9:8447772-8447773	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs144924629	chr9:8447833-8447834	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs147779717	chr9:8447834-8447835	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs188210068	chr9:8447856-8447857	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs374671317	chr9:8447875-8447876	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs111325712	chr9:8447914-8447915	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs551553210	chr9:8447921-8447922	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs73424276	chr9:8447981-8447982	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs386732343	chr9:8447983-8447984	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs184573470	chr9:8447984-8447985	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs144992880	chr9:8447987-8447988	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs534937607	chr9:8448040-8448041	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs528231068	chr9:8448063-8448064	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs551593381	chr9:8448064-8448065	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs150963454	chr9:8448078-8448079	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs111264440	chr9:8448099-8448100	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs545109295	chr9:8448130-8448131	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs563266259	chr9:8448190-8448191	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs117495472	chr9:8448192-8448193	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs542686008	chr9:8448203-8448204	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs116237041	chr9:8448211-8448212	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs115380070	chr9:8448219-8448220	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs67687738	chr9:8448221-8448222	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs377587316	chr9:8448252-8448253	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545061692	chr9:8448253-8448254	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550733062	chr9:8448257-8448258	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs187442064	chr9:8448277-8448278	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs537143012	chr9:8448305-8448306	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs533481786	chr9:8448312-8448313	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs548964919	chr9:8448325-8448326	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs78571829	chr9:8448334-8448335	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs534998790	chr9:8448337-8448338	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs62534020	chr9:8448338-8448339	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs372599248	chr9:8448346-8448347	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs538896905	chr9:8448354-8448355	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs557521741	chr9:8448365-8448366	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs535816795	chr9:8448372-8448373	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs75533570	chr9:8448416-8448417	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs1323587	chr9:8448426-8448427	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs112448801	chr9:8448430-8448431	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs560878978	chr9:8448466-8448467	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs572844047	chr9:8448472-8448473	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs75352511	chr9:8448515-8448516	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs140752225	chr9:8448536-8448537	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532423817	chr9:8448544-8448545	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs150143292	chr9:8448546-8448547	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs565825460	chr9:8448567-8448568	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs562293541	chr9:8448574-8448575	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:114)

Disease	PMID	Source
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
Chronic lymphocytic leukemia	21546498	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:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:8389600-8451000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr9:8402600-8448800	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr9:8418200-8476000	Weak transcription	Fetal Brain Male	brain
4	chr9:8419200-8491000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr9:8420600-8466000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr9:8420600-8557600	Weak transcription	Aorta	Aorta
7	chr9:8421400-8456400	Weak transcription	Ovary	ovary
8	chr9:8422000-8464800	Weak transcription	Brain Germinal Matrix	brain
9	chr9:8424200-8485000	Weak transcription	Fetal Kidney	kidney
10	chr9:8430200-8465000	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr9:8432600-8448400	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr9:8434200-8485200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr9:8438200-8457600	Weak transcription	Fetal Heart	heart
14	chr9:8438600-8448400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr9:8438600-8459800	Weak transcription	Brain Angular Gyrus	brain
16	chr9:8442000-8451000	Weak transcription	Brain Substantia Nigra	brain
17	chr9:8442000-8451200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr9:8442000-8458000	Weak transcription	Brain Hippocampus Middle	brain
19	chr9:8442200-8522200	Weak transcription	Liver	Liver
20	chr9:8446200-8450800	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr9:8446600-8451800	Strong transcription	Fetal Lung	lung
22	chr9:8447000-8447800	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr9:8447000-8449800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr9:8447000-8450400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr9:8447200-8456200	Weak transcription	Brain Anterior Caudate	brain
26	chr9:8447400-8447800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr9:8447400-8448000	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr9:8447400-8448600	Strong transcription	Fetal Muscle Trunk	muscle
29	chr9:8447600-8447800	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr9:8447600-8448000	Enhancers	H9 Cell Line	embryonic stem cell
31	chr9:8447600-8448000	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr9:8447600-8448200	Strong transcription	Fetal Muscle Leg	muscle
33	chr9:8447600-8448400	Strong transcription	Fetal Stomach	stomach
34	chr9:8447600-8449000	Strong transcription	Fetal Brain Female	brain
35	chr9:8447600-8450200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr9:8447600-8451400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr9:8447800-8448000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr9:8447800-8450600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr9:8447800-8468200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr9:8448000-8468200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr9:8448000-8494800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr9:8448200-8456000	Weak transcription	Fetal Muscle Leg	muscle
43	chr9:8448400-8449000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr9:8448400-8449800	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr9:8448400-8472800	Weak transcription	Fetal Stomach	stomach
46	chr9:8448600-8449400	Weak transcription	Fetal Muscle Trunk	muscle
47	chr9:8448800-8449800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr9:8448800-8450400	Strong transcription	Cortex derived primary cultured neurospheres	brain
49	chr9:8449000-8454600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr9:8449000-8465000	Weak transcription	Fetal Brain Female	brain

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