Variant report

Variant	nsv1029346
Chromosome Location	chr9:9385317-9395912
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 415 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:415 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150558761	chr9:9385328-9385329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs183242610	chr9:9385350-9385351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs10816108	chr9:9385356-9385357	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs567419929	chr9:9385360-9385361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs186489641	chr9:9385366-9385367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs546670674	chr9:9385381-9385382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs1023217	chr9:9385401-9385402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs372554593	chr9:9385418-9385419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs527452881	chr9:9385420-9385421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs191250187	chr9:9385423-9385424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs142140785	chr9:9385437-9385438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs537718935	chr9:9385486-9385487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs555810884	chr9:9385488-9385489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs184541086	chr9:9385489-9385490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs564752295	chr9:9385490-9385491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs10816109	chr9:9385507-9385508	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs151197548	chr9:9385522-9385523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs561014557	chr9:9385536-9385537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs10816110	chr9:9385560-9385561	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs563732723	chr9:9385583-9385584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs140339403	chr9:9385604-9385605	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs150218121	chr9:9385610-9385611	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs561027318	chr9:9385626-9385627	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs10977709	chr9:9385640-9385641	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs10977710	chr9:9385651-9385652	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs188179840	chr9:9385656-9385657	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs532279664	chr9:9385681-9385682	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs192773886	chr9:9385694-9385695	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs4400438	chr9:9385717-9385718	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs141528902	chr9:9385722-9385723	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535875795	chr9:9385729-9385730	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs185156406	chr9:9385754-9385755	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs147040584	chr9:9385755-9385756	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567657654	chr9:9385757-9385758	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs138523569	chr9:9385774-9385775	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553176371	chr9:9385790-9385791	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577698522	chr9:9385803-9385804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs545450833	chr9:9385881-9385882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs149641646	chr9:9385898-9385899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs575546560	chr9:9385950-9385951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs542663189	chr9:9386045-9386046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs371748506	chr9:9386070-9386071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs189167294	chr9:9386113-9386114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs181778902	chr9:9386123-9386124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs143321429	chr9:9386133-9386134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs565039097	chr9:9386135-9386136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs10977711	chr9:9386162-9386163	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs568871686	chr9:9386163-9386164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs184957520	chr9:9386180-9386181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs189630247	chr9:9386188-9386189	Weak transcription	n/a	n/a	Overlapped CNVs	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:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:9384800-9385600	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr9:9385200-9385600	Enhancers	Stomach Mucosa	stomach
3	chr9:9385400-9385800	Enhancers	Aorta	Aorta
4	chr9:9385600-9390800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr9:9386800-9387200	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr9:9387600-9387800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr9:9387800-9389600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr9:9389600-9390000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr9:9390000-9390800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr9:9390800-9391000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr9:9390800-9391000	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr9:9391000-9391400	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr9:9391000-9391600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr9:9391400-9391800	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr9:9391600-9392200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr9:9392600-9393200	Active TSS	Rectal Mucosa Donor 29	rectum

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