Variant report

Variant	nsv613921
Chromosome Location	chr9:25952529-26028352
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 690 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:690 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370739821	chr9:25964408-25964409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs80271307	chr9:25964409-25964410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs186304023	chr9:25964413-25964414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs189607050	chr9:25964421-25964422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs552377055	chr9:25964426-25964427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs532317505	chr9:25964443-25964444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs550614825	chr9:25964498-25964499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs562761112	chr9:25964502-25964503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs530087736	chr9:25964503-25964504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs539879307	chr9:25964506-25964507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs534008271	chr9:25964510-25964511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs181701102	chr9:25964517-25964518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs555061	chr9:25964555-25964556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs570730197	chr9:25964566-25964567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs538397133	chr9:25964567-25964568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs662239	chr9:25964570-25964571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs554392	chr9:25964574-25964575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs202217711	chr9:25964600-25964601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs570437056	chr9:25964638-25964639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs556584297	chr9:25964653-25964654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs185786715	chr9:25964664-25964665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs535907975	chr9:25964701-25964702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs554585880	chr9:25964702-25964703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs573000453	chr9:25964707-25964708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs145993943	chr9:25964711-25964712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs661420	chr9:25964719-25964720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs34256500	chr9:25964748-25964749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs564939859	chr9:25964790-25964791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs552374	chr9:25964835-25964836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs576973390	chr9:25964849-25964850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs552317	chr9:25964852-25964853	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs551515	chr9:25964901-25964902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs562681177	chr9:25964915-25964916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs529986527	chr9:25964932-25964933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs12552503	chr9:25964944-25964945	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs560139510	chr9:25964949-25964950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs370263633	chr9:25964965-25964966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs527648171	chr9:25964972-25964973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs575286043	chr9:25969634-25969635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs542757481	chr9:25969642-25969643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs367827631	chr9:25969653-25969654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs142917440	chr9:25969774-25969775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs573076166	chr9:25969778-25969779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs549631586	chr9:25969811-25969812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs16909976	chr9:25969885-25969886	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs565072083	chr9:25969908-25969909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs151101782	chr9:25969914-25969915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs544307829	chr9:25969960-25969961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs538389350	chr9:25969969-25969970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs376511522	chr9:25969976-25969977	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:118)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:25964400-25965000	Enhancers	Hela-S3	cervix
2	chr9:25969600-25970000	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr9:25969800-25970000	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr9:25973800-25974400	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr9:25974600-25975000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr9:25975200-25975800	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr9:25975400-25975800	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr9:25975400-25975800	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr9:25975400-25975800	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr9:25975400-25975800	Enhancers	Brain Germinal Matrix	brain
11	chr9:25975400-25976000	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr9:25982600-25982800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr9:25993200-25994400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr9:25994400-25995200	Enhancers	HUVEC	blood vessel
15	chr9:25994800-25995200	Enhancers	Hela-S3	cervix
16	chr9:25997600-25998800	Active TSS	Fetal Heart	heart
17	chr9:26012600-26013400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr9:26012800-26013400	Enhancers	Hela-S3	cervix
19	chr9:26012800-26013600	Enhancers	NHDF-Ad	bronchial
20	chr9:26012800-26013800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr9:26013000-26013400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr9:26013000-26013400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr9:26020400-26020800	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr9:26020600-26025600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr9:26023600-26023800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
26	chr9:26023800-26025800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr9:26025200-26026200	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr9:26025200-26029200	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr9:26025200-26030200	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr9:26025400-26028800	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr9:26025600-26025800	Enhancers	H1 Cell Line	embryonic stem cell
32	chr9:26025600-26026000	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr9:26025600-26027000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr9:26025600-26027000	Enhancers	H9 Cell Line	embryonic stem cell
35	chr9:26025600-26028200	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr9:26025800-26027200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr9:26026000-26027200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr9:26026200-26027200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
39	chr9:26026400-26026600	Enhancers	H1 Cell Line	embryonic stem cell
40	chr9:26026400-26027600	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr9:26026800-26027400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr9:26027000-26028000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr9:26027000-26028200	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr9:26027200-26027400	Enhancers	NHDF-Ad	bronchial
45	chr9:26027200-26029400	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr9:26027200-26030000	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr9:26027600-26028000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr9:26028000-26028200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr9:26028000-26028400	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr9:26028200-26028400	Enhancers	H9 Cell Line	embryonic stem cell

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