Variant report

Variant	nsv1052912
Chromosome Location	chr9:93846078-93866362
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:93852040..93852708-chr9:93997819..93998576,2	MCF-7	breast:
2	chr9:93861383..93864130-chr9:93924341..93926643,2	K562	blood:
3	chr9:93856837..93858612-chr9:93863193..93865232,2	MCF-7	breast:
4	chr9:93851169..93853610-chr9:94185531..94187838,2	MCF-7	breast:
5	chr9:93851643..93853280-chr9:94184627..94186664,2	MCF-7	breast:
6	chr9:93835779..93838532-chr9:93850081..93852073,2	MCF-7	breast:
7	chr9:93850930..93853677-chr9:94443908..94445787,2	MCF-7	breast:
8	chr9:93864900..93867839-chr9:93979180..93981264,3	K562	blood:
9	chr9:93840871..93843687-chr9:93844437..93846781,2	K562	blood:
10	chr9:93856837..93858612-chr9:93863193..93865232,2	MCF-7	breast:
11	chr9:93860852..93862614-chr9:93863253..93866000,2	MCF-7	breast:
12	chr9:93865889..93866398-chrX:17038960..17039531,2	MCF-7	breast:
13	chr9:93851568..93852532-chr9:94195225..94195747,2	MCF-7	breast:
14	chr9:93851678..93853073-chr9:94187548..94188671,5	MCF-7	breast:
15	chr9:93860852..93862614-chr9:93863253..93866000,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000237422	chromatin interactions
ENSG00000233081	chromatin interactions
ENSG00000165030	chromatin interactions
ENSG00000235641	chromatin interactions

Extended variants
information (count: 751 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:751 , 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	rs551157528	chr9:93846094-93846095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs112147268	chr9:93846114-93846115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs549800808	chr9:93846205-93846206	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs144515539	chr9:93846323-93846324	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs148548166	chr9:93846346-93846347	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs567509309	chr9:93846377-93846378	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs144049783	chr9:93846430-93846431	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs372730095	chr9:93846449-93846450	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs538123043	chr9:93846461-93846462	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs73650913	chr9:93846478-93846479	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs77080517	chr9:93846525-93846526	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs80240092	chr9:93846532-93846533	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs557377081	chr9:93846600-93846601	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs374061651	chr9:93846606-93846607	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs147316853	chr9:93846631-93846632	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs558634138	chr9:93846681-93846682	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572209991	chr9:93846688-93846689	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs542758004	chr9:93846754-93846755	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs561135155	chr9:93846820-93846821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs452953	chr9:93846826-93846827	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs188905328	chr9:93846847-93846848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs141006993	chr9:93846850-93846851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs181714134	chr9:93846856-93846857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs368409246	chr9:93846870-93846871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs532753983	chr9:93846879-93846880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs186160451	chr9:93846905-93846906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs144957008	chr9:93846915-93846916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs147876539	chr9:93846948-93846949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs191454751	chr9:93846987-93846988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs567447071	chr9:93847037-93847038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs76575256	chr9:93847038-93847039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs556538010	chr9:93847055-93847056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs79658995	chr9:93847066-93847067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs538061314	chr9:93847090-93847091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs139275856	chr9:93847101-93847102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs182430975	chr9:93847105-93847106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs571527342	chr9:93847108-93847109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs186172119	chr9:93847114-93847115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs189949159	chr9:93847117-93847118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs572146563	chr9:93847121-93847122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs7047039	chr9:93847133-93847134	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs554668569	chr9:93847172-93847173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs375098583	chr9:93847177-93847178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs66653526	chr9:93847196-93847197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs56036228	chr9:93847197-93847198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs58661552	chr9:93847198-93847199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs576199490	chr9:93847223-93847224	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs559127086	chr9:93847234-93847235	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs145248602	chr9:93847268-93847269	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs148868674	chr9:93847285-93847286	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Leukemia	18688285	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Bipolar disorder	18458673	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Biliary cancer	19435499	CNVD
small cell lung cancer	20016488	CNVD
Intracranial aneurysm	16715129	CNVD
Cardiac fibroma	18329553	CNVD
Mental retardation	21693067	CNVD
Glioma	17123091	CNVD
Mantle cell lymphoma	19029149	CNVD
Breast cancer	17133270	CNVD
Basal cell nevus syndrome	21572526	CNVD
Mental retardation	19951919	CNVD
Retinoblastoma	22278416	CNVD
9q22.3 microdeletion syndrome	22283845	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:333 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:93841000-93847800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr9:93841200-93847800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr9:93841400-93846200	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr9:93841400-93846200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr9:93841600-93849600	Weak transcription	Fetal Intestine Small	intestine
6	chr9:93843000-93849000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr9:93844000-93846400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr9:93846200-93846600	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr9:93846200-93846800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr9:93846200-93846800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr9:93846200-93846800	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr9:93846200-93846800	Enhancers	HepG2	liver
13	chr9:93846400-93846600	Enhancers	H9 Cell Line	embryonic stem cell
14	chr9:93846600-93847200	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr9:93846600-93847400	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr9:93846600-93847800	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr9:93846600-93850200	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr9:93846800-93847000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr9:93846800-93847200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr9:93846800-93847200	Weak transcription	HepG2	liver
21	chr9:93846800-93847600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr9:93846800-93847600	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr9:93846800-93847800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr9:93847200-93847600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr9:93847200-93847600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr9:93847200-93847800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr9:93847200-93848200	Enhancers	HepG2	liver
28	chr9:93847400-93847800	Enhancers	H9 Cell Line	embryonic stem cell
29	chr9:93847400-93848000	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr9:93847400-93848200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr9:93847400-93848600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr9:93847400-93849600	Enhancers	Primary hematopoietic stem cells	blood
33	chr9:93847600-93847800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr9:93847600-93847800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr9:93847600-93848000	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr9:93847600-93848000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
37	chr9:93847600-93850000	Enhancers	Monocytes-CD14+_RO01746	blood
38	chr9:93847800-93848000	Enhancers	H1 Cell Line	embryonic stem cell
39	chr9:93847800-93848000	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr9:93847800-93848000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr9:93847800-93848200	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr9:93847800-93848200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr9:93847800-93849600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr9:93847800-93855600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr9:93848000-93849000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr9:93848000-93849400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr9:93848000-93849800	Enhancers	Primary neutrophils fromperipheralblood	blood
48	chr9:93848200-93851600	Weak transcription	HepG2	liver
49	chr9:93848200-93852200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr9:93849000-93849200	Enhancers	Psoas Muscle	Psoas

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