Variant report

Variant	nsv613931
Chromosome Location	chr9:26259926-26276773
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 755 )
Associated
traits (count: 117 )

Variant overlapped rSNPs/rCNVs (count:755 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10967275	chr9:26259926-26259927	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs376590629	chr9:26259946-26259947	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs370741707	chr9:26259960-26259961	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs554694365	chr9:26259995-26259996	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs572896982	chr9:26259997-26259998	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs528498804	chr9:26259999-26260000	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs540176879	chr9:26260015-26260016	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs558275465	chr9:26260025-26260026	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs372697317	chr9:26260042-26260043	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs544082304	chr9:26260053-26260054	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs562478676	chr9:26260062-26260063	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs546551957	chr9:26260168-26260169	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs529832770	chr9:26260194-26260195	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs541669758	chr9:26260216-26260217	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs140290675	chr9:26260233-26260234	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs143430541	chr9:26260279-26260280	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs150935204	chr9:26260291-26260292	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs140875278	chr9:26260334-26260335	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs114736634	chr9:26260405-26260406	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs550478448	chr9:26260411-26260412	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs568809218	chr9:26260450-26260451	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536051519	chr9:26260470-26260471	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs150174796	chr9:26260471-26260472	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs566518972	chr9:26260488-26260489	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs1014004	chr9:26260508-26260509	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190377275	chr9:26260524-26260525	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558649778	chr9:26260529-26260530	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs62542516	chr9:26260537-26260538	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs543846255	chr9:26260541-26260542	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs74587343	chr9:26260559-26260560	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs116902138	chr9:26260607-26260608	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs541586143	chr9:26260630-26260631	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs35557422	chr9:26260645-26260646	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs138586143	chr9:26260654-26260655	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs117363174	chr9:26260666-26260667	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs545958031	chr9:26260707-26260708	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs193294417	chr9:26260723-26260724	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs184262534	chr9:26260756-26260757	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs200863733	chr9:26260793-26260794	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs531727642	chr9:26260821-26260822	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs550242835	chr9:26260825-26260826	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs568720154	chr9:26260869-26260870	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs146691926	chr9:26260909-26260910	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529620830	chr9:26260917-26260918	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547973964	chr9:26260957-26260958	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs561133653	chr9:26260988-26260989	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs10967276	chr9:26261022-26261023	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs142833181	chr9:26261063-26261064	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs570575878	chr9:26261071-26261072	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs10967277	chr9:26261088-26261089	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:117)

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
Cancer	22183965	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
Adenoid cystic carcinoma	18332873	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
Schizophrenia	20967226	CNVD

Chromatin state (count:131 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:26256800-26260200	Enhancers	Hela-S3	cervix
2	chr9:26259200-26260000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr9:26259200-26260000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr9:26259200-26260800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr9:26259200-26262800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr9:26259200-26262800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr9:26259200-26263200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr9:26259400-26260000	Enhancers	A549	lung
9	chr9:26259400-26260000	Enhancers	HUVEC	blood vessel
10	chr9:26259400-26260200	Enhancers	NH-A	brain
11	chr9:26259400-26262800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr9:26259400-26262800	Enhancers	HMEC	breast
13	chr9:26259600-26260000	Enhancers	Muscle Satellite Cultured Cells	--
14	chr9:26259600-26261800	Enhancers	HSMM	muscle
15	chr9:26259600-26261800	Enhancers	NHEK	skin
16	chr9:26259800-26260400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr9:26259800-26260800	Enhancers	HSMMtube	muscle
18	chr9:26259800-26263000	Enhancers	NHDF-Ad	bronchial
19	chr9:26260000-26260200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr9:26260000-26260400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
21	chr9:26260000-26260400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr9:26260000-26260600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr9:26260000-26260600	Flanking Active TSS	A549	lung
24	chr9:26260000-26260800	Flanking Active TSS	HUVEC	blood vessel
25	chr9:26260200-26260400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr9:26260200-26260400	Enhancers	NHLF	lung
27	chr9:26260200-26260600	Flanking Active TSS	Hela-S3	cervix
28	chr9:26260200-26260600	Flanking Active TSS	NH-A	brain
29	chr9:26260200-26260800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr9:26260400-26261400	Weak transcription	NHLF	lung
31	chr9:26260400-26261600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr9:26260400-26261600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr9:26260400-26261800	Enhancers	Muscle Satellite Cultured Cells	--
34	chr9:26260400-26262400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr9:26260600-26261200	Enhancers	NH-A	brain
36	chr9:26260600-26261400	Enhancers	Hela-S3	cervix
37	chr9:26260600-26261600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr9:26260600-26261800	Enhancers	A549	lung
39	chr9:26260800-26261200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr9:26260800-26261200	Weak transcription	HSMMtube	muscle
41	chr9:26260800-26261800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr9:26260800-26264000	Enhancers	HUVEC	blood vessel
43	chr9:26261200-26261800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr9:26261200-26262400	Enhancers	HSMMtube	muscle
45	chr9:26261200-26262400	Flanking Active TSS	NH-A	brain
46	chr9:26261400-26262000	Flanking Active TSS	Hela-S3	cervix
47	chr9:26261400-26262000	Enhancers	NHLF	lung
48	chr9:26261400-26262400	Enhancers	Placenta Amnion	Placenta Amnion
49	chr9:26261600-26262000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr9:26261600-26262000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin

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