Variant report

Variant	nsv892299
Chromosome Location	chr9:9929916-9974221
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1314 )
Associated
traits (count: 117 )

Variant overlapped rSNPs/rCNVs (count:1314 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7028418	chr9:9931409-9931410	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs577665311	chr9:9931432-9931433	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs543501776	chr9:9931440-9931441	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs375950828	chr9:9931459-9931460	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs557066851	chr9:9931471-9931472	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs569628043	chr9:9931475-9931476	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs537983483	chr9:9931477-9931478	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs573875487	chr9:9931484-9931485	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs543178783	chr9:9931488-9931489	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs199982529	chr9:9931489-9931490	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs10978101	chr9:9931491-9931492	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs528736010	chr9:9931499-9931500	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs545424526	chr9:9931508-9931509	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs564061979	chr9:9931512-9931513	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs532988917	chr9:9931515-9931516	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs191183066	chr9:9931518-9931519	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs569737482	chr9:9931519-9931520	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs7047683	chr9:9931534-9931535	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs549123181	chr9:9931535-9931536	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs184343819	chr9:9931545-9931546	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs189232258	chr9:9931549-9931550	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs10978102	chr9:9931554-9931555	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs201108498	chr9:9931559-9931560	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs571292357	chr9:9931566-9931567	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs537075445	chr9:9931569-9931570	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs556960158	chr9:9931575-9931576	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs201796871	chr9:9931576-9931577	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs10978103	chr9:9931583-9931584	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs181119140	chr9:9931584-9931585	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs371615888	chr9:9931587-9931588	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs184777889	chr9:9931591-9931592	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs189041628	chr9:9931592-9931593	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs565602093	chr9:9931597-9931598	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs7044523	chr9:9931631-9931632	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs543629381	chr9:9931632-9931633	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs143716076	chr9:9931633-9931634	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs7044524	chr9:9931637-9931638	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs576458191	chr9:9931638-9931639	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs528309595	chr9:9931639-9931640	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs542351479	chr9:9931655-9931656	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs112155650	chr9:9931674-9931675	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs186368976	chr9:9931677-9931678	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs536965860	chr9:9931679-9931680	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs7047854	chr9:9931696-9931697	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs567367956	chr9:9931705-9931706	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs149710623	chr9:9931716-9931717	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs375613873	chr9:9931719-9931720	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs533473583	chr9:9931724-9931725	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs573360918	chr9:9931726-9931727	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs7044656	chr9:9931733-9931734	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:117)

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
Schizophrenia	23813976	CNVD
Bipolar disorder	19114987	CNVD
Renal cell carcinoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Glioma	20126413	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:9931400-9931800	Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr9:9939400-9939800	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr9:9942600-9943000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr9:9942600-9943000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr9:9943000-9943400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr9:9943200-9943600	Enhancers	Fetal Heart	heart
7	chr9:9943400-9944400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr9:9943600-9944200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr9:9943600-9949600	Weak transcription	Fetal Heart	heart
10	chr9:9943800-9944400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr9:9946400-9946800	Enhancers	Fetal Brain Male	brain
12	chr9:9949600-9949800	Active TSS	Fetal Heart	heart
13	chr9:9949600-9950400	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr9:9949800-9950000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr9:9949800-9950400	Flanking Active TSS	Fetal Heart	heart
16	chr9:9950000-9950400	Enhancers	Left Ventricle	heart
17	chr9:9950000-9951400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr9:9950000-9952400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr9:9950400-9950800	Enhancers	Fetal Heart	heart
20	chr9:9950800-9951200	Flanking Active TSS	Fetal Heart	heart
21	chr9:9950800-9952600	Enhancers	Primary hematopoietic stem cells	blood
22	chr9:9951200-9954200	Enhancers	Fetal Heart	heart
23	chr9:9951400-9951800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr9:9951800-9952200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr9:9962200-9962600	Enhancers	Pancreatic Islets	Pancreatic Islet
26	chr9:9963200-9963600	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr9:9965000-9965400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr9:9965200-9967800	Enhancers	Fetal Heart	heart
29	chr9:9969600-9970000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr9:9970000-9972800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr9:9970600-9971000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr9:9972800-9973000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr9:9972800-9973600	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr9:9973200-9973600	Enhancers	HUES64 Cell Line	embryonic stem cell

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