Variant report

Variant	nsv8081
Chromosome Location	chr7:40393228-40486239
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	chr20:57473196..57474009-chr7:40413360..40414065,2	MCF-7	breast:
2	chr7:39988445..39991258-chr7:40413776..40416750,2	K562	blood:

Variant related genes	Relation type
ENSG00000065883	chromatin interactions
ENSG00000259826	chromatin interactions

Extended variants
information (count: 2278 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:2278 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560309937	chr7:40393338-40393339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs190013015	chr7:40393348-40393349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs183362975	chr7:40393379-40393380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs570294123	chr7:40393473-40393474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs146434437	chr7:40393590-40393591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs75110575	chr7:40393660-40393661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs148289487	chr7:40393661-40393662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs140626074	chr7:40393739-40393740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs542921680	chr7:40393837-40393838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs577696695	chr7:40393848-40393849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs537096270	chr7:40393883-40393884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs556929782	chr7:40393889-40393890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs573864397	chr7:40393915-40393916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs542860871	chr7:40393959-40393960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs559306737	chr7:40393990-40393991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs572959928	chr7:40394026-40394027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs372595673	chr7:40394034-40394035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs150469883	chr7:40394069-40394070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs188870522	chr7:40394081-40394082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs115225255	chr7:40394110-40394111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs371187391	chr7:40394112-40394113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs58079961	chr7:40394133-40394134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs113594113	chr7:40394152-40394153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs530611963	chr7:40394161-40394162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs550604904	chr7:40394185-40394186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs560893964	chr7:40394219-40394220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs5883728	chr7:40394241-40394242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs398004515	chr7:40394244-40394245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs201814738	chr7:40394245-40394246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs374360712	chr7:40394331-40394332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs529579757	chr7:40394355-40394356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs138276176	chr7:40394382-40394383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs566225230	chr7:40394396-40394397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs13223678	chr7:40394415-40394416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs13223679	chr7:40394416-40394417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs534918224	chr7:40394460-40394461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs17171693	chr7:40394497-40394498	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs571450701	chr7:40394504-40394505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs537110301	chr7:40394513-40394514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs577392538	chr7:40394541-40394542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs200179599	chr7:40394549-40394550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs74348646	chr7:40394617-40394618	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs573950217	chr7:40394639-40394640	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536172005	chr7:40394645-40394646	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs143008196	chr7:40394649-40394650	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs34239313	chr7:40394652-40394653	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs573171148	chr7:40394695-40394696	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs545263469	chr7:40394732-40394733	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs373585831	chr7:40394748-40394749	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs565031243	chr7:40394834-40394835	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Autism	22495311	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	17237825	CNVD
Breast cancer	17899364	CNVD
Breast cancer	20409316	CNVD
Acute monocytic leukemia	16498392	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Colorectal cancer	19455253	CNVD
Glioblastoma multiforme	22286061	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Gastric cancer	24379144	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:223 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:40387000-40394600	Weak transcription	K562	blood
2	chr7:40389000-40395800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:40389200-40394200	Weak transcription	Osteobl	bone
4	chr7:40393800-40395800	Enhancers	Adipose Nuclei	Adipose
5	chr7:40393800-40397600	Enhancers	Fetal Lung	lung
6	chr7:40394200-40394800	Enhancers	Muscle Satellite Cultured Cells	--
7	chr7:40394200-40394800	Enhancers	Osteobl	bone
8	chr7:40394600-40395000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr7:40394600-40395000	Enhancers	K562	blood
10	chr7:40394800-40395800	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr7:40394800-40395800	Weak transcription	Osteobl	bone
12	chr7:40395000-40396200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr7:40395600-40397200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr7:40395600-40397200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr7:40395600-40397200	Enhancers	HSMMtube	muscle
16	chr7:40395800-40396000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr7:40395800-40396800	Weak transcription	Adipose Nuclei	Adipose
18	chr7:40395800-40396800	Enhancers	HSMM	muscle
19	chr7:40395800-40397200	Enhancers	Muscle Satellite Cultured Cells	--
20	chr7:40395800-40397200	Enhancers	Osteobl	bone
21	chr7:40395800-40397400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr7:40395800-40397600	Enhancers	NHDF-Ad	bronchial
23	chr7:40396000-40396600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr7:40396200-40397200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr7:40396800-40401400	Weak transcription	HSMM	muscle
26	chr7:40397000-40397200	Enhancers	Adipose Nuclei	Adipose
27	chr7:40397000-40397200	Enhancers	K562	blood
28	chr7:40397600-40398600	Weak transcription	Fetal Lung	lung
29	chr7:40398600-40398800	Enhancers	Fetal Lung	lung
30	chr7:40408800-40409600	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr7:40408800-40409600	Enhancers	Monocytes-CD14+_RO01746	blood
32	chr7:40409000-40409800	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr7:40409000-40410400	Enhancers	Liver	Liver
34	chr7:40409200-40410200	Enhancers	HepG2	liver
35	chr7:40409400-40410000	Enhancers	Pancreas	Pancrea
36	chr7:40409600-40409800	Enhancers	Fetal Lung	lung
37	chr7:40409800-40411000	Weak transcription	Fetal Lung	lung
38	chr7:40410000-40410200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
39	chr7:40410000-40410400	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
40	chr7:40410200-40410400	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
41	chr7:40410200-40411800	Weak transcription	HepG2	liver
42	chr7:40410400-40411800	Weak transcription	Liver	Liver
43	chr7:40411000-40412000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr7:40411000-40412000	Enhancers	Fetal Lung	lung
45	chr7:40411000-40412200	Enhancers	NHDF-Ad	bronchial
46	chr7:40411600-40412000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr7:40411600-40412000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr7:40411800-40412400	Enhancers	HepG2	liver
49	chr7:40411800-40412600	Enhancers	Liver	Liver
50	chr7:40412000-40414000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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