Variant report

Variant	esv9280
Chromosome Location	chr9:79124262-79125070
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	chr9:79124487..79126454-chr9:79129345..79131796,2	MCF-7	breast:
2	chr9:79114955..79117396-chr9:79123792..79125800,2	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548317374	chr9:79124278-79124279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs546046145	chr9:79124336-79124337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs78447814	chr9:79124374-79124375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs150081251	chr9:79124382-79124383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs528360794	chr9:79124394-79124395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs548490837	chr9:79124398-79124399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs138391229	chr9:79124420-79124421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs530461417	chr9:79124455-79124456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs187383653	chr9:79124460-79124461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs374267129	chr9:79124519-79124520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs200415563	chr9:79124520-79124521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs375084680	chr9:79124690-79124691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs113226254	chr9:79124720-79124721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs57537545	chr9:79124754-79124755	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs28446550	chr9:79124765-79124766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs111576354	chr9:79124781-79124782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs552367997	chr9:79124788-79124789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs113623530	chr9:79124806-79124807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs112320383	chr9:79124809-79124810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs113417896	chr9:79124819-79124820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs566295830	chr9:79124824-79124825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs201049203	chr9:79124828-79124829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs546667802	chr9:79124900-79124901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs5020123	chr9:79124906-79124907	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs184298295	chr9:79125008-79125009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs568323828	chr9:79125021-79125022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs146905562	chr9:79125052-79125053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs557465322	chr9:79125065-79125066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Breast cancer	17133270	CNVD
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
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	20729466	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Oral cancer	21386901	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Bipolar disorder	18458673	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Intellectual disability	22102821	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Wilms tumour	21544195	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:79093400-79142800	Weak transcription	Fetal Stomach	stomach
2	chr9:79118600-79126200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr9:79118600-79134200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr9:79118800-79124600	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr9:79118800-79125200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr9:79118800-79125200	Weak transcription	NHDF-Ad	bronchial
7	chr9:79118800-79127600	Weak transcription	HSMMtube	muscle
8	chr9:79118800-79136400	Weak transcription	Gastric	stomach
9	chr9:79118800-79145800	Weak transcription	Primary B cells from peripheral blood	blood
10	chr9:79119000-79125200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr9:79119200-79124800	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr9:79119200-79125200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr9:79119200-79125200	Weak transcription	NHLF	lung
14	chr9:79119200-79127800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr9:79119200-79134000	Weak transcription	Fetal Intestine Small	intestine
16	chr9:79119800-79130400	Weak transcription	Primary B cells from cord blood	blood
17	chr9:79119800-79132200	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr9:79120000-79127600	Weak transcription	HMEC	breast
19	chr9:79120400-79134000	Weak transcription	Fetal Intestine Large	intestine
20	chr9:79120400-79145200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr9:79120600-79128000	Weak transcription	HSMM	muscle
22	chr9:79120600-79131000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr9:79120800-79131200	Weak transcription	Primary hematopoietic stem cells	blood
24	chr9:79120800-79131400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr9:79121000-79127600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr9:79122000-79124800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr9:79122600-79131400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr9:79122800-79125000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr9:79123200-79125200	Weak transcription	Osteobl	bone
30	chr9:79123800-79124400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr9:79123800-79125600	Enhancers	Muscle Satellite Cultured Cells	--
32	chr9:79124400-79125200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr9:79124800-79125800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr9:79125000-79126200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links