Variant report

Variant	nsv614703
Chromosome Location	chr9:79151865-79160759
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	chr9:79072682..79077481-chr9:79155712..79161702,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000187210	chromatin interactions

Extended variants
information (count: 336 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:336 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10781366	chr9:79151865-79151866	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
2	rs535785027	chr9:79151925-79151926	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs143460183	chr9:79151961-79151962	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs575237486	chr9:79151967-79151968	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs117212174	chr9:79151969-79151970	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs550658051	chr9:79152000-79152001	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs558247620	chr9:79152032-79152033	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs148369196	chr9:79152048-79152049	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs570414921	chr9:79152083-79152084	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs540403254	chr9:79152087-79152088	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs560139152	chr9:79152096-79152097	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs540045750	chr9:79152098-79152099	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs558810358	chr9:79152128-79152129	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs542943743	chr9:79152210-79152211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs562437401	chr9:79152232-79152233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs141583741	chr9:79152241-79152242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs193233237	chr9:79152313-79152314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs377731952	chr9:79152354-79152355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs150867460	chr9:79152362-79152363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs140087415	chr9:79152363-79152364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs553268881	chr9:79152372-79152373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs547160510	chr9:79152396-79152397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs566959747	chr9:79152397-79152398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs573233304	chr9:79152401-79152402	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs535706090	chr9:79152444-79152445	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs144043290	chr9:79152490-79152491	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs568878652	chr9:79152491-79152492	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs147270189	chr9:79152508-79152509	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs140855288	chr9:79152509-79152510	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs561597325	chr9:79152532-79152533	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs115605081	chr9:79152583-79152584	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs370900347	chr9:79152671-79152672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs553894131	chr9:79152682-79152683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs573900917	chr9:79152696-79152697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs149766924	chr9:79152805-79152806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs114755483	chr9:79152817-79152818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs535744578	chr9:79152827-79152828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs144691368	chr9:79152867-79152868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs77604685	chr9:79152892-79152893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs564768446	chr9:79152984-79152985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs527338200	chr9:79153016-79153017	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540772194	chr9:79153057-79153058	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs575243482	chr9:79153081-79153082	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs377134300	chr9:79153092-79153093	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs199584229	chr9:79153098-79153099	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs138637498	chr9:79153099-79153100	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs372922129	chr9:79153100-79153101	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs386735222	chr9:79153104-79153105	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200624884	chr9:79153105-79153106	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs71509886	chr9:79153109-79153110	Enhancers Weak transcription	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:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:79129200-79152000	Weak transcription	Duodenum Mucosa	Duodenum
2	chr9:79134600-79152000	Weak transcription	Pancreas	Pancrea
3	chr9:79137200-79173600	Weak transcription	Primary B cells from cord blood	blood
4	chr9:79137600-79152400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr9:79144000-79153000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr9:79146000-79152000	Weak transcription	HSMMtube	muscle
7	chr9:79146800-79152000	Weak transcription	Stomach Mucosa	stomach
8	chr9:79148400-79152000	Weak transcription	HMEC	breast
9	chr9:79148400-79159800	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr9:79148600-79159800	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr9:79149400-79152000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr9:79149600-79152400	Weak transcription	NHLF	lung
13	chr9:79149600-79153000	Weak transcription	NH-A	brain
14	chr9:79150000-79152000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr9:79150000-79152000	Weak transcription	HSMM	muscle
16	chr9:79151800-79153400	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr9:79151800-79154200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr9:79151800-79154200	Enhancers	Osteobl	bone
19	chr9:79151800-79154400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr9:79151800-79154400	Enhancers	Muscle Satellite Cultured Cells	--
21	chr9:79152000-79152200	Enhancers	HSMMtube	muscle
22	chr9:79152000-79152600	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr9:79152000-79152600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr9:79152000-79152600	Enhancers	Brain Anterior Caudate	brain
25	chr9:79152000-79152600	Enhancers	Duodenum Mucosa	Duodenum
26	chr9:79152000-79152600	Enhancers	Fetal Brain Female	brain
27	chr9:79152000-79152600	Enhancers	Fetal Muscle Trunk	muscle
28	chr9:79152000-79152600	Enhancers	Fetal Stomach	stomach
29	chr9:79152000-79152600	Enhancers	Lung	lung
30	chr9:79152000-79152600	Enhancers	Pancreas	Pancrea
31	chr9:79152000-79152600	Enhancers	Stomach Mucosa	stomach
32	chr9:79152000-79152600	Enhancers	HUVEC	blood vessel
33	chr9:79152000-79152800	Enhancers	Brain Hippocampus Middle	brain
34	chr9:79152000-79152800	Enhancers	Brain Substantia Nigra	brain
35	chr9:79152000-79152800	Enhancers	Fetal Muscle Leg	muscle
36	chr9:79152000-79153800	Enhancers	HMEC	breast
37	chr9:79152000-79154000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr9:79152000-79154200	Enhancers	HSMM	muscle
39	chr9:79152200-79152600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr9:79152200-79152600	Enhancers	Brain Cingulate Gyrus	brain
41	chr9:79152200-79152600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
42	chr9:79152200-79153200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr9:79152400-79152600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr9:79152400-79152800	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr9:79152400-79152800	Enhancers	Gastric	stomach
46	chr9:79152400-79153800	Enhancers	NHLF	lung
47	chr9:79152600-79153000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr9:79152600-79156800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr9:79152800-79154200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr9:79153000-79153400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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