Variant report

Variant	nsv614697
Chromosome Location	chr9:79148376-79160759
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:79071953..79074920-chr9:79149530..79152206,2	MCF-7	breast:
2	chr9:79149027..79151357-chr9:79152128..79154578,2	MCF-7	breast:
3	chr9:79073112..79077050-chr9:79144085..79148483,6	MCF-7	breast:
4	chr9:79134186..79136452-chr9:79146465..79148525,2	MCF-7	breast:
5	chr9:79072682..79077481-chr9:79155712..79161702,6	MCF-7	breast:
6	chr9:79145810..79147846-chr9:79148207..79150771,2	MCF-7	breast:
7	chr9:79149027..79151357-chr9:79152128..79154578,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000187210	chromatin interactions

Extended variants
information (count: 474 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:474 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs621293	chr9:79148376-79148377	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs550197679	chr9:79148411-79148412	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs372607237	chr9:79148430-79148431	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs35053154	chr9:79148431-79148432	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs570106404	chr9:79148445-79148446	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs60189974	chr9:79148446-79148447	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs528473943	chr9:79148450-79148451	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs541787483	chr9:79148461-79148462	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs199990872	chr9:79148496-79148497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs72730619	chr9:79148511-79148512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs75943426	chr9:79148546-79148547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs12684083	chr9:79148591-79148592	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs554785377	chr9:79148597-79148598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs35712825	chr9:79148689-79148690	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs568259157	chr9:79148825-79148826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs536986592	chr9:79148828-79148829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs11790224	chr9:79148861-79148862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs549752062	chr9:79148874-79148875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs116214455	chr9:79148937-79148938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs12338540	chr9:79148939-79148940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs144797517	chr9:79148941-79148942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs11144943	chr9:79148985-79148986	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs557863765	chr9:79149102-79149103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs572927074	chr9:79149168-79149169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs541242588	chr9:79149170-79149171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs35208829	chr9:79149233-79149234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs398113559	chr9:79149239-79149240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs561577495	chr9:79149254-79149255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs575202336	chr9:79149255-79149256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs544137470	chr9:79149306-79149307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs77813557	chr9:79149332-79149333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs188909769	chr9:79149335-79149336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs182405476	chr9:79149440-79149441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs552608567	chr9:79149519-79149520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs201069365	chr9:79149528-79149529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs552454866	chr9:79149568-79149569	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs145846250	chr9:79149572-79149573	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs77260887	chr9:79149583-79149584	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs139939476	chr9:79149584-79149585	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs528616565	chr9:79149599-79149600	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs187397563	chr9:79149616-79149617	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs534627869	chr9:79149628-79149629	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs9695409	chr9:79149650-79149651	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs567921783	chr9:79149675-79149676	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs192238220	chr9:79149678-79149679	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs550481108	chr9:79149682-79149683	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs116698188	chr9:79149765-79149766	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs541268360	chr9:79149810-79149811	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs369350432	chr9:79149908-79149909	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs373143768	chr9:79149909-79149910	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	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:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:79129200-79152000	Weak transcription	Duodenum Mucosa	Duodenum
2	chr9:79134400-79150800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr9:79134600-79152000	Weak transcription	Pancreas	Pancrea
4	chr9:79137200-79173600	Weak transcription	Primary B cells from cord blood	blood
5	chr9:79137600-79152400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr9:79141600-79149200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr9:79144000-79153000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr9:79146000-79149200	Weak transcription	Small Intestine	intestine
9	chr9:79146000-79152000	Weak transcription	HSMMtube	muscle
10	chr9:79146400-79149200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr9:79146600-79149000	Weak transcription	Fetal Intestine Small	intestine
12	chr9:79146800-79152000	Weak transcription	Stomach Mucosa	stomach
13	chr9:79147000-79149200	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr9:79147400-79149800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr9:79147800-79148400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr9:79147800-79149600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr9:79147800-79149600	Enhancers	NHLF	lung
18	chr9:79148000-79148400	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr9:79148000-79148400	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr9:79148000-79148400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
21	chr9:79148000-79148400	Enhancers	HMEC	breast
22	chr9:79148000-79148400	Flanking Active TSS	Osteobl	bone
23	chr9:79148000-79148600	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr9:79148000-79149200	Enhancers	Primary hematopoietic stem cells	blood
25	chr9:79148000-79149200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr9:79148000-79149200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr9:79148000-79149400	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr9:79148000-79149600	Enhancers	NH-A	brain
29	chr9:79148200-79148400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr9:79148200-79148400	Enhancers	Right Atrium	heart
31	chr9:79148200-79148400	Flanking Active TSS	HSMM	muscle
32	chr9:79148200-79148600	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr9:79148200-79148600	Weak transcription	NHDF-Ad	bronchial
34	chr9:79148200-79148800	Enhancers	Primary B cells from peripheral blood	blood
35	chr9:79148200-79149200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr9:79148400-79148600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr9:79148400-79150000	Enhancers	HSMM	muscle
38	chr9:79148400-79150200	Enhancers	Muscle Satellite Cultured Cells	--
39	chr9:79148400-79150200	Enhancers	Osteobl	bone
40	chr9:79148400-79152000	Weak transcription	HMEC	breast
41	chr9:79148400-79159800	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr9:79148600-79148800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr9:79148600-79149000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr9:79148600-79149400	Enhancers	NHDF-Ad	bronchial
45	chr9:79148600-79149600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr9:79148600-79159800	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr9:79148800-79150000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr9:79149000-79149400	Enhancers	Fetal Intestine Small	intestine
49	chr9:79149000-79150000	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr9:79149200-79149400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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