Variant report

Variant	nsv1025440
Chromosome Location	chr9:26555201-26572236
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 204 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:204 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73642955	chr9:26561207-26561208	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs537341079	chr9:26561279-26561280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs377750128	chr9:26561291-26561292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs537985124	chr9:26561298-26561299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs138521117	chr9:26561320-26561321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs568033881	chr9:26561328-26561329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs534839842	chr9:26561344-26561345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs373151670	chr9:26561375-26561376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs113918165	chr9:26561389-26561390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs376447452	chr9:26561404-26561405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs7847137	chr9:26561413-26561414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs538601738	chr9:26561417-26561418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs557242426	chr9:26561437-26561438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs141882654	chr9:26561438-26561439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs187868048	chr9:26561442-26561443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs561353839	chr9:26561485-26561486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs573373027	chr9:26561595-26561596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs541147182	chr9:26561601-26561602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs577994811	chr9:26561621-26561622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs116458363	chr9:26561635-26561636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs551434969	chr9:26561643-26561644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs7861196	chr9:26561661-26561662	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs116230465	chr9:26561703-26561704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs549243802	chr9:26561781-26561782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs192915055	chr9:26561807-26561808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs35466923	chr9:26561823-26561824	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs1887222	chr9:26561828-26561829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs113332824	chr9:26561847-26561848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs62544457	chr9:26561866-26561867	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs538739561	chr9:26561919-26561920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs144586553	chr9:26561960-26561961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs188809617	chr9:26561992-26561993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs148459587	chr9:26561996-26561997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs555213586	chr9:26562005-26562006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs75836978	chr9:26562029-26562030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs12335551	chr9:26562049-26562050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs565467906	chr9:26562068-26562069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs62544458	chr9:26562070-26562071	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs62544459	chr9:26562077-26562078	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs563170216	chr9:26562098-26562099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs530491024	chr9:26562288-26562289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs549029232	chr9:26562307-26562308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs561190758	chr9:26562329-26562330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs73642956	chr9:26562349-26562350	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs554056564	chr9:26562376-26562377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs571109272	chr9:26562380-26562381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs538778805	chr9:26562410-26562411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs551040503	chr9:26562431-26562432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs76340190	chr9:26562466-26562467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs536598755	chr9:26562491-26562492	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:116)

Disease	PMID	Source
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Medulloblastoma	21979893	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
Oral squamous cell carcinoma	17134496	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
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	21668985	CNVD
Myelodysplastic syndrome	21251322	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	18803288	CNVD
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Acute myeloid leukemia	19651601	CNVD
Coronary Disease	20032323	CNVD
Squamous cell cancer	20885788	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21732550	CNVD
Gastric cancer	22539939	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Metastatic melanoma	18483359	CNVD
Non-small cell lung cancer	20864512	CNVD
Cervical cancer	21062161	CNVD
Acute myeloid leukemia	16864856	CNVD
Glioblastoma	17090523	CNVD
Lung cancer	16773561	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Colorectal cancer	16774939	CNVD
Bladder cancer	19088036	CNVD
Colorectal cancer	16272173	CNVD
Melanoma	16977458	CNVD
Glioblastoma multiforme	17369134	CNVD
Chagasic megaesophagus	20163722	CNVD
Melanoma	19566914	CNVD
Squamous cell cancer	19047905	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Hodgkin''s lymphoma	18179710	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21858162	CNVD
Pancreatic cancer	21811587	CNVD
Barrett''s syndrome	19417022	CNVD
Myelofibrosis	22110671	CNVD
Urothelial cell carcinoma	18451213	CNVD
polycythaemia	22829968	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21364760	CNVD
Glioblastoma multiforme	21525872	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:26561200-26564000	Enhancers	Hela-S3	cervix
2	chr9:26561600-26562800	Enhancers	Fetal Lung	lung
3	chr9:26562000-26562400	Enhancers	HepG2	liver
4	chr9:26564000-26564400	Weak transcription	Hela-S3	cervix
5	chr9:26564400-26564800	Enhancers	Hela-S3	cervix
6	chr9:26565000-26565400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
7	chr9:26565600-26566000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr9:26566200-26566600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr9:26566200-26566600	Enhancers	Fetal Muscle Leg	muscle
10	chr9:26566200-26566600	Enhancers	Psoas Muscle	Psoas
11	chr9:26567600-26568000	Enhancers	Skeletal Muscle Female	skeletal muscle

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