Variant report

Variant	nsv613352
Chromosome Location	chr9:9829018-9859571
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 825 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:825 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568013160	chr9:9832816-9832817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs533867000	chr9:9832817-9832818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs553737002	chr9:9832839-9832840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs570840815	chr9:9832845-9832846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs567392215	chr9:9832865-9832866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs539521285	chr9:9832881-9832882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs77263200	chr9:9832893-9832894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs75160650	chr9:9832894-9832895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs200311219	chr9:9832904-9832905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs1408134	chr9:9832914-9832915	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs36003645	chr9:9832926-9832927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs576521384	chr9:9832928-9832929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs148306613	chr9:9832930-9832931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs556022802	chr9:9832950-9832951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs572760637	chr9:9832966-9832967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs571333384	chr9:9833092-9833093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs541761980	chr9:9833096-9833097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs546547645	chr9:9833103-9833104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs2821460	chr9:9833124-9833125	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs539073042	chr9:9833163-9833164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs532134315	chr9:9833172-9833173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs56042949	chr9:9833176-9833177	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs188560008	chr9:9833179-9833180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs551337985	chr9:9833206-9833207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs547963608	chr9:9833221-9833222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs374675726	chr9:9833248-9833249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs181173992	chr9:9833260-9833261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs527548991	chr9:9833281-9833282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs558967407	chr9:9833286-9833287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs376512474	chr9:9833296-9833297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs570710842	chr9:9833335-9833336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs4636254	chr9:9833372-9833373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs539831244	chr9:9833391-9833392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs549952567	chr9:9833452-9833453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs150494359	chr9:9833453-9833454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs10124383	chr9:9833467-9833468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs538020238	chr9:9833470-9833471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs367597203	chr9:9833474-9833475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs572697947	chr9:9833480-9833481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs185824458	chr9:9833499-9833500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs558435834	chr9:9833505-9833506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs555224330	chr9:9833506-9833507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs10125069	chr9:9833514-9833515	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs10978018	chr9:9833525-9833526	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs189946484	chr9:9833555-9833556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs138742872	chr9:9833560-9833561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs71319300	chr9:9833576-9833577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs71506069	chr9:9833578-9833579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs561518226	chr9:9833594-9833595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs142765491	chr9:9833595-9833596	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:114)

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

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:9832800-9834600	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr9:9834200-9834600	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr9:9845200-9845800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr9:9845400-9846200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr9:9845400-9846200	Enhancers	Dnd41	blood
6	chr9:9845800-9846800	Enhancers	Primary hematopoietic stem cells	blood
7	chr9:9845800-9847000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr9:9845800-9847800	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr9:9846200-9847000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr9:9846200-9847000	Flanking Active TSS	Dnd41	blood
11	chr9:9846600-9847000	Active TSS	GM12878-XiMat	blood
12	chr9:9846800-9847200	Weak transcription	Primary hematopoietic stem cells	blood
13	chr9:9847000-9848200	Enhancers	Dnd41	blood
14	chr9:9847000-9848400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr9:9847000-9848600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr9:9847200-9848400	Enhancers	Primary hematopoietic stem cells	blood
17	chr9:9847600-9847800	Enhancers	GM12878-XiMat	blood
18	chr9:9847600-9848200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr9:9847600-9848200	Enhancers	Placenta	Placenta
20	chr9:9848200-9855000	Weak transcription	Placenta	Placenta
21	chr9:9848600-9855400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr9:9853600-9853800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr9:9854000-9855600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr9:9855000-9855200	Enhancers	Pancreatic Islets	Pancreatic Islet
25	chr9:9855000-9855600	Enhancers	Dnd41	blood
26	chr9:9855000-9856200	Enhancers	Fetal Thymus	thymus
27	chr9:9855000-9856400	Enhancers	Placenta	Placenta
28	chr9:9855200-9855400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr9:9855200-9855600	Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr9:9855400-9855600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr9:9855400-9855800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
32	chr9:9855400-9855800	Enhancers	Primary T cells from cord blood	blood
33	chr9:9855400-9855800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr9:9855400-9856000	Active TSS	HUES6 Cell Line	embryonic stem cell
35	chr9:9855400-9856000	Enhancers	Thymus	Thymus
36	chr9:9855600-9855800	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr9:9855600-9856000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr9:9855600-9856000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr9:9855600-9857400	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr9:9855600-9861000	Weak transcription	Dnd41	blood
41	chr9:9855800-9856000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr9:9856000-9856200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr9:9856200-9860800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr9:9856200-9862400	Weak transcription	Fetal Thymus	thymus
45	chr9:9857400-9858400	Enhancers	Pancreatic Islets	Pancreatic Islet

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