Variant report

Variant	nsv892308
Chromosome Location	chr9:10139580-10178560
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 872 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:872 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560723476	chr9:10143626-10143627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs572876907	chr9:10143640-10143641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs72696915	chr9:10143653-10143654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs561778627	chr9:10143659-10143660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs564986233	chr9:10143668-10143669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs140284370	chr9:10143689-10143690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs144248632	chr9:10143692-10143693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs561182806	chr9:10143719-10143720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs529840021	chr9:10143726-10143727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs561924844	chr9:10143749-10143750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs185185615	chr9:10143802-10143803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs566402475	chr9:10143851-10143852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs538665064	chr9:10143856-10143857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs191372579	chr9:10143863-10143864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs568890844	chr9:10143876-10143877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs538385035	chr9:10143936-10143937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs182840312	chr9:10143948-10143949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs574989047	chr9:10143962-10143963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs534084145	chr9:10143970-10143971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs567902876	chr9:10143991-10143992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs112032186	chr9:10144075-10144076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs10809033	chr9:10144103-10144104	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs574285491	chr9:10144105-10144106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs572882836	chr9:10144119-10144120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs546503061	chr9:10144128-10144129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs72696916	chr9:10144155-10144156	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs575127818	chr9:10144242-10144243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs186658574	chr9:10144252-10144253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs560775777	chr9:10144270-10144271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs529922200	chr9:10144271-10144272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs540005045	chr9:10144273-10144274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs147844324	chr9:10144284-10144285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs72696917	chr9:10144296-10144297	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs72696918	chr9:10144327-10144328	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs141472783	chr9:10144404-10144405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs12551163	chr9:10144409-10144410	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs548663564	chr9:10144443-10144444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs183061636	chr9:10144478-10144479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs534421865	chr9:10144503-10144504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs149961439	chr9:10144545-10144546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs571036858	chr9:10144570-10144571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs540182869	chr9:10144574-10144575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs12552479	chr9:10144584-10144585	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs187848537	chr9:10144589-10144590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs375164930	chr9:10144594-10144595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs538531044	chr9:10144597-10144598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs12235311	chr9:10144631-10144632	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs574481845	chr9:10144647-10144648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs114758713	chr9:10144651-10144652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs559960050	chr9:10144661-10144662	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:115)

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
Lung adenocarcinoma	17982442	CNVD
Breast cancer	21611746	CNVD
Melanoma	22183965	CNVD
Attention deficit hyperactivity disorder	19546859	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:10143600-10145400	Enhancers	Fetal Heart	heart
2	chr9:10143800-10144000	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr9:10143800-10145000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr9:10144600-10144800	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr9:10145200-10146400	Enhancers	Liver	Liver
6	chr9:10145400-10146800	Weak transcription	Fetal Heart	heart
7	chr9:10146200-10146800	Enhancers	HepG2	liver
8	chr9:10146400-10147200	Enhancers	Stomach Mucosa	stomach
9	chr9:10146400-10148200	Flanking Active TSS	Liver	Liver
10	chr9:10146600-10147000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr9:10146800-10147200	Flanking Active TSS	HepG2	liver
12	chr9:10146800-10149000	Enhancers	Fetal Heart	heart
13	chr9:10147000-10149800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr9:10147200-10148000	Enhancers	HepG2	liver
15	chr9:10148200-10149600	Enhancers	Liver	Liver
16	chr9:10148600-10149400	Enhancers	Fetal Brain Female	brain
17	chr9:10159600-10160200	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr9:10164400-10164600	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr9:10164800-10165400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr9:10164800-10166600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr9:10165000-10165400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr9:10165200-10165400	Enhancers	Pancreatic Islets	Pancreatic Islet
23	chr9:10165400-10167800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr9:10165400-10173600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr9:10166600-10167800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr9:10167200-10168000	Enhancers	Fetal Brain Male	brain
27	chr9:10167600-10168000	Enhancers	Fetal Heart	heart
28	chr9:10167800-10168200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr9:10167800-10168600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr9:10168000-10168400	Weak transcription	Fetal Heart	heart
31	chr9:10168000-10173600	Weak transcription	Fetal Brain Male	brain
32	chr9:10168400-10168600	Enhancers	Fetal Heart	heart
33	chr9:10168600-10172000	Weak transcription	Fetal Heart	heart
34	chr9:10172000-10174000	Enhancers	Fetal Heart	heart
35	chr9:10173600-10174400	Enhancers	Fetal Brain Male	brain
36	chr9:10173600-10174800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr9:10173800-10174200	Enhancers	Fetal Brain Female	brain

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