Variant report

Variant	esv2764167
Chromosome Location	chr9:79150338-79160463
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	chr9:79072682..79077481-chr9:79155712..79161702,6	MCF-7	breast:
3	chr9:79149027..79151357-chr9:79152128..79154578,2	MCF-7	breast:
4	chr9:79145810..79147846-chr9:79148207..79150771,2	MCF-7	breast:
5	chr9:79149027..79151357-chr9:79152128..79154578,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000187210	chromatin interactions

Extended variants
information (count: 397 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:397 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145458948	chr9:79150348-79150349	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs561514527	chr9:79150358-79150359	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs530633986	chr9:79150371-79150372	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs550395047	chr9:79150372-79150373	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs577368790	chr9:79150373-79150374	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs147655574	chr9:79150374-79150375	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs34509730	chr9:79150379-79150380	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs142787450	chr9:79150380-79150381	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs539767549	chr9:79150387-79150388	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs7871619	chr9:79150413-79150414	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs112757718	chr9:79150414-79150415	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs71885894	chr9:79150415-79150416	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs112446604	chr9:79150421-79150422	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs546037587	chr9:79150438-79150439	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs566473248	chr9:79150478-79150479	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs140711141	chr9:79150498-79150499	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs553093299	chr9:79150513-79150514	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs11144944	chr9:79150527-79150528	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs184985646	chr9:79150588-79150589	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs190173639	chr9:79150625-79150626	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs78807455	chr9:79150626-79150627	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs577611344	chr9:79150627-79150628	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs652061	chr9:79150662-79150663	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs561730811	chr9:79150684-79150685	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs553043935	chr9:79150688-79150689	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs573209354	chr9:79150710-79150711	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs182397814	chr9:79150729-79150730	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs531103967	chr9:79150742-79150743	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs187397246	chr9:79150813-79150814	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs11144945	chr9:79150866-79150867	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs543998149	chr9:79150873-79150874	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs544697281	chr9:79150891-79150892	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs653026	chr9:79150903-79150904	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs142295057	chr9:79150939-79150940	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs546877329	chr9:79150971-79150972	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs566316680	chr9:79150979-79150980	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs532352545	chr9:79151036-79151037	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs559300860	chr9:79151038-79151039	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs34494911	chr9:79151039-79151040	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs67770206	chr9:79151040-79151041	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs202115426	chr9:79151052-79151053	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs200635021	chr9:79151054-79151055	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs398068673	chr9:79151059-79151060	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs112051280	chr9:79151075-79151076	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs151218776	chr9:79151082-79151083	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs193001129	chr9:79151127-79151128	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs530506779	chr9:79151133-79151134	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs140409560	chr9:79151166-79151167	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs557546572	chr9:79151213-79151214	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs571026173	chr9:79151222-79151223	Weak transcription	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:78 , 50 per page) page: 1 2

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	chr9:79144000-79153000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr9:79146000-79152000	Weak transcription	HSMMtube	muscle
8	chr9:79146800-79152000	Weak transcription	Stomach Mucosa	stomach
9	chr9:79148400-79152000	Weak transcription	HMEC	breast
10	chr9:79148400-79159800	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr9:79148600-79159800	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr9:79149400-79150600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr9:79149400-79152000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr9:79149600-79151800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr9:79149600-79152400	Weak transcription	NHLF	lung
16	chr9:79149600-79153000	Weak transcription	NH-A	brain
17	chr9:79149800-79151800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr9:79150000-79151800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr9:79150000-79152000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr9:79150000-79152000	Weak transcription	HSMM	muscle
21	chr9:79150200-79151800	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr9:79150200-79151800	Weak transcription	Osteobl	bone
23	chr9:79151000-79151200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr9:79151800-79153400	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr9:79151800-79154200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr9:79151800-79154200	Enhancers	Osteobl	bone
27	chr9:79151800-79154400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr9:79151800-79154400	Enhancers	Muscle Satellite Cultured Cells	--
29	chr9:79152000-79152200	Enhancers	HSMMtube	muscle
30	chr9:79152000-79152600	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr9:79152000-79152600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr9:79152000-79152600	Enhancers	Brain Anterior Caudate	brain
33	chr9:79152000-79152600	Enhancers	Duodenum Mucosa	Duodenum
34	chr9:79152000-79152600	Enhancers	Fetal Brain Female	brain
35	chr9:79152000-79152600	Enhancers	Fetal Muscle Trunk	muscle
36	chr9:79152000-79152600	Enhancers	Fetal Stomach	stomach
37	chr9:79152000-79152600	Enhancers	Lung	lung
38	chr9:79152000-79152600	Enhancers	Pancreas	Pancrea
39	chr9:79152000-79152600	Enhancers	Stomach Mucosa	stomach
40	chr9:79152000-79152600	Enhancers	HUVEC	blood vessel
41	chr9:79152000-79152800	Enhancers	Brain Hippocampus Middle	brain
42	chr9:79152000-79152800	Enhancers	Brain Substantia Nigra	brain
43	chr9:79152000-79152800	Enhancers	Fetal Muscle Leg	muscle
44	chr9:79152000-79153800	Enhancers	HMEC	breast
45	chr9:79152000-79154000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr9:79152000-79154200	Enhancers	HSMM	muscle
47	chr9:79152200-79152600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr9:79152200-79152600	Enhancers	Brain Cingulate Gyrus	brain
49	chr9:79152200-79152600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
50	chr9:79152200-79153200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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