Variant report

Variant	nsv471279
Chromosome Location	chr9:10081386-10115338
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1182 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:1182 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370200688	chr9:10085609-10085610	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs397943873	chr9:10085613-10085614	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs182228944	chr9:10085640-10085641	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs147908768	chr9:10085643-10085644	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs574084126	chr9:10085665-10085666	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs1010927	chr9:10085681-10085682	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs137973175	chr9:10085695-10085696	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs553563611	chr9:10085708-10085709	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs576987663	chr9:10085725-10085726	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs367921460	chr9:10085726-10085727	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs545647082	chr9:10085733-10085734	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs7035849	chr9:10085734-10085735	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs191868058	chr9:10085735-10085736	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs185158366	chr9:10085755-10085756	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs113635074	chr9:10085814-10085815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs113563418	chr9:10085822-10085823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs7021364	chr9:10085847-10085848	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs143089256	chr9:10085855-10085856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs73641849	chr9:10085880-10085881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs190348942	chr9:10085889-10085890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs34618593	chr9:10085918-10085919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs564398713	chr9:10085919-10085920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs291323	chr9:10085932-10085933	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs570282036	chr9:10085942-10085943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs78878485	chr9:10085949-10085950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs535783176	chr9:10086005-10086006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs567476937	chr9:10086018-10086019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs527844458	chr9:10086045-10086046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs193069680	chr9:10086053-10086054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs139818877	chr9:10086071-10086072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs553845941	chr9:10086115-10086116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs145354039	chr9:10086126-10086127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs563994846	chr9:10086129-10086130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs185545832	chr9:10086134-10086135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs115914765	chr9:10086135-10086136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs190468801	chr9:10086153-10086154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs536015345	chr9:10086159-10086160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562937704	chr9:10086181-10086182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs180675923	chr9:10086188-10086189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs528905450	chr9:10086213-10086214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs114576622	chr9:10086222-10086223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541034195	chr9:10086234-10086235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372331749	chr9:10086299-10086300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs17618445	chr9:10086324-10086325	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs185341741	chr9:10086329-10086330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs543499624	chr9:10086376-10086377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs291324	chr9:10086390-10086391	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs529424832	chr9:10086410-10086411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs549287751	chr9:10086436-10086437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534485350	chr9:10086451-10086452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:113)

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

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:10085600-10085800	ZNF genes & repeats	Aorta	Aorta
2	chr9:10085800-10096000	Weak transcription	Aorta	Aorta
3	chr9:10096000-10096200	Active TSS	Aorta	Aorta
4	chr9:10104600-10105400	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr9:10104800-10105000	Enhancers	Fetal Brain Female	brain
6	chr9:10105400-10107000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr9:10107000-10107200	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr9:10107200-10107400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr9:10107400-10108000	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr9:10107600-10108800	Weak transcription	Fetal Brain Female	brain
11	chr9:10108000-10111600	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr9:10108200-10109000	Enhancers	Fetal Heart	heart
13	chr9:10108800-10109000	Enhancers	Fetal Brain Female	brain
14	chr9:10109000-10109800	Flanking Active TSS	Fetal Heart	heart
15	chr9:10109000-10112000	Weak transcription	Fetal Brain Female	brain
16	chr9:10109800-10110400	Enhancers	Fetal Lung	lung
17	chr9:10109800-10110800	Enhancers	Fetal Heart	heart
18	chr9:10110000-10110400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr9:10110200-10110600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr9:10110800-10111800	Weak transcription	Fetal Heart	heart
21	chr9:10111600-10111800	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr9:10111800-10114200	Enhancers	Fetal Heart	heart
23	chr9:10111800-10119000	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr9:10112000-10112800	Enhancers	Fetal Brain Female	brain
25	chr9:10112400-10113200	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr9:10112800-10113400	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr9:10113800-10114400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr9:10114000-10114400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr9:10114400-10115400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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