Variant report

Variant	nsv430012
Chromosome Location	chr9:26257238-26395900
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:25963971..25964744-chr9:26326247..26327016,2	MCF-7	breast:
2	chr9:26326443..26327103-chr9:26862889..26863559,2	MCF-7	breast:
3	chr9:25964124..25964728-chr9:26326171..26327079,3	MCF-7	breast:

Extended variants
information (count: 3211 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:3211 , 50 per page) page: 1 2 3 4 5 6 7 ... 65

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs623893	chr9:26257238-26257239	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs545425641	chr9:26257338-26257339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs78364739	chr9:26257356-26257357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs146663630	chr9:26257360-26257361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs549124308	chr9:26257370-26257371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs10967273	chr9:26257385-26257386	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs528925937	chr9:26257425-26257426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs376331721	chr9:26257430-26257431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs369209	chr9:26257439-26257440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs539051228	chr9:26257447-26257448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs556140578	chr9:26257458-26257459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs375658612	chr9:26257481-26257482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs140255284	chr9:26257502-26257503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs569813373	chr9:26257521-26257522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs537360969	chr9:26257592-26257593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs185414893	chr9:26257625-26257626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs573859644	chr9:26257650-26257651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs145251518	chr9:26257659-26257660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs76100797	chr9:26257662-26257663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs578082987	chr9:26257721-26257722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs530266663	chr9:26257753-26257754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs190666865	chr9:26257790-26257791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs542375688	chr9:26257801-26257802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs180677416	chr9:26257821-26257822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs575812216	chr9:26257824-26257825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs542933891	chr9:26257837-26257838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs115401261	chr9:26257844-26257845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs113264712	chr9:26257874-26257875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs528644602	chr9:26257886-26257887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs540462788	chr9:26257911-26257912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs559141564	chr9:26257956-26257957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs563656741	chr9:26257986-26257987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs367955462	chr9:26258023-26258024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs368355516	chr9:26258053-26258054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs559758087	chr9:26258068-26258069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs576635293	chr9:26258092-26258093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs551057367	chr9:26258099-26258100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs569657498	chr9:26258104-26258105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs141026214	chr9:26258137-26258138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs530550407	chr9:26258148-26258149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs549284906	chr9:26258188-26258189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs567607899	chr9:26258213-26258214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs533311828	chr9:26258224-26258225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs186269461	chr9:26258237-26258238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs530990262	chr9:26258285-26258286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs12555624	chr9:26258290-26258291	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs571609309	chr9:26258294-26258295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs138062064	chr9:26258295-26258296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs34714787	chr9:26258319-26258320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs574947753	chr9:26258320-26258321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:120)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Glioblastoma multiforme	21525872	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:310 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:26256400-26259600	Weak transcription	NHEK	skin
2	chr9:26256800-26259400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr9:26256800-26260200	Enhancers	Hela-S3	cervix
4	chr9:26259200-26260000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr9:26259200-26260000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr9:26259200-26260800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr9:26259200-26262800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr9:26259200-26262800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr9:26259200-26263200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr9:26259400-26259800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr9:26259400-26260000	Enhancers	A549	lung
12	chr9:26259400-26260000	Enhancers	HUVEC	blood vessel
13	chr9:26259400-26260200	Enhancers	NH-A	brain
14	chr9:26259400-26262800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr9:26259400-26262800	Enhancers	HMEC	breast
16	chr9:26259600-26260000	Enhancers	Muscle Satellite Cultured Cells	--
17	chr9:26259600-26261800	Enhancers	HSMM	muscle
18	chr9:26259600-26261800	Enhancers	NHEK	skin
19	chr9:26259800-26260400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr9:26259800-26260800	Enhancers	HSMMtube	muscle
21	chr9:26259800-26263000	Enhancers	NHDF-Ad	bronchial
22	chr9:26260000-26260200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr9:26260000-26260400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
24	chr9:26260000-26260400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr9:26260000-26260600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr9:26260000-26260600	Flanking Active TSS	A549	lung
27	chr9:26260000-26260800	Flanking Active TSS	HUVEC	blood vessel
28	chr9:26260200-26260400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr9:26260200-26260400	Enhancers	NHLF	lung
30	chr9:26260200-26260600	Flanking Active TSS	Hela-S3	cervix
31	chr9:26260200-26260600	Flanking Active TSS	NH-A	brain
32	chr9:26260200-26260800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr9:26260400-26261400	Weak transcription	NHLF	lung
34	chr9:26260400-26261600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr9:26260400-26261600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr9:26260400-26261800	Enhancers	Muscle Satellite Cultured Cells	--
37	chr9:26260400-26262400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr9:26260600-26261200	Enhancers	NH-A	brain
39	chr9:26260600-26261400	Enhancers	Hela-S3	cervix
40	chr9:26260600-26261600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr9:26260600-26261800	Enhancers	A549	lung
42	chr9:26260800-26261200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr9:26260800-26261200	Weak transcription	HSMMtube	muscle
44	chr9:26260800-26261800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr9:26260800-26264000	Enhancers	HUVEC	blood vessel
46	chr9:26261200-26261800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr9:26261200-26262400	Enhancers	HSMMtube	muscle
48	chr9:26261200-26262400	Flanking Active TSS	NH-A	brain
49	chr9:26261400-26262000	Flanking Active TSS	Hela-S3	cervix
50	chr9:26261400-26262000	Enhancers	NHLF	lung

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