Variant report

Variant	nsv8063
Chromosome Location	chr7:17097791-17101486
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:17100496..17103422-chr7:17133231..17136201,2	MCF-7	breast:
2	chr7:17101013..17102818-chr7:17107864..17110439,2	MCF-7	breast:
3	chr7:17095846..17098605-chr7:17101734..17104493,2	MCF-7	breast:

Extended variants
information (count: 156 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:156 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576454742	chr7:17097853-17097854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs189809389	chr7:17097863-17097864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs182709559	chr7:17097897-17097898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs80287619	chr7:17097922-17097923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs374622779	chr7:17097924-17097925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs372444992	chr7:17097962-17097963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs555793675	chr7:17098045-17098046	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs76195411	chr7:17098064-17098065	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs138673174	chr7:17098065-17098066	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs551334877	chr7:17098066-17098067	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs569567033	chr7:17098073-17098074	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs1523636	chr7:17098087-17098088	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs530947	chr7:17098097-17098098	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs117858270	chr7:17098139-17098140	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs116420005	chr7:17098159-17098160	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs553145059	chr7:17098247-17098248	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs375295813	chr7:17098286-17098287	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs540642512	chr7:17098369-17098370	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs144579830	chr7:17098393-17098394	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs574121825	chr7:17098459-17098460	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs376974481	chr7:17098474-17098475	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs186989795	chr7:17098488-17098489	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs77672445	chr7:17098524-17098525	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs575177311	chr7:17098567-17098568	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs138299872	chr7:17098617-17098618	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs563711521	chr7:17098663-17098664	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs192943258	chr7:17098693-17098694	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs73680164	chr7:17098737-17098738	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs143806327	chr7:17098754-17098755	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs2217372	chr7:17098777-17098778	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs551172588	chr7:17098816-17098817	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs550394698	chr7:17098828-17098829	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs59377546	chr7:17098833-17098834	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs201857742	chr7:17098853-17098854	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs201677108	chr7:17098854-17098855	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs540102308	chr7:17098870-17098871	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs551818538	chr7:17098884-17098885	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs185136086	chr7:17098888-17098889	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs188305627	chr7:17098896-17098897	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs13239055	chr7:17098923-17098924	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs555629710	chr7:17098971-17098972	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs574060223	chr7:17098987-17098988	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs535301326	chr7:17099027-17099028	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs556704771	chr7:17099042-17099043	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs575186512	chr7:17099052-17099053	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs10228079	chr7:17099057-17099058	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs557743784	chr7:17099060-17099061	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs114700174	chr7:17099068-17099069	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs13224860	chr7:17099086-17099087	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs13224862	chr7:17099093-17099094	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
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
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Pleomorphic liposarcoma	18784837	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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Rubinstein-Taybi syndrome	22470819	CNVD
Alzheimer''s disease	22166940	CNVD
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Bladder cancer	21909424	CNVD
Cancer	21183584	CNVD
Autism	20808228	CNVD
Sezary syndrome	18413736	CNVD
Multiple myeloma	17550852	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Autism	22495309	CNVD

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:17089000-17098000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr7:17095200-17098200	Weak transcription	Aorta	Aorta
3	chr7:17095200-17098600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr7:17095600-17108800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:17095800-17099200	Enhancers	Dnd41	blood
6	chr7:17096400-17100000	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr7:17096600-17098000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr7:17096600-17098000	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr7:17096600-17100000	Enhancers	Primary hematopoietic stem cells	blood
10	chr7:17096800-17098000	Weak transcription	HSMM	muscle
11	chr7:17096800-17098000	Weak transcription	Osteobl	bone
12	chr7:17096800-17100000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr7:17096800-17100400	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr7:17097200-17098200	Weak transcription	HMEC	breast
15	chr7:17097400-17098400	Weak transcription	NHEK	skin
16	chr7:17097400-17099000	Enhancers	Muscle Satellite Cultured Cells	--
17	chr7:17097600-17099000	Enhancers	HUVEC	blood vessel
18	chr7:17097600-17099000	Enhancers	NHDF-Ad	bronchial
19	chr7:17097800-17099000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr7:17098000-17098600	Enhancers	HSMM	muscle
21	chr7:17098000-17098800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr7:17098000-17098800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr7:17098000-17098800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr7:17098000-17098800	Enhancers	Osteobl	bone
25	chr7:17098000-17099000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr7:17098000-17099200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr7:17098200-17098600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr7:17098200-17098800	Enhancers	HMEC	breast
29	chr7:17098400-17098800	Enhancers	NHEK	skin
30	chr7:17098400-17099200	Enhancers	Primary B cells from cord blood	blood
31	chr7:17098600-17098800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr7:17098800-17099400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr7:17098800-17101600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr7:17098800-17102400	Weak transcription	Osteobl	bone
35	chr7:17098800-17107800	Weak transcription	HMEC	breast
36	chr7:17099000-17101200	Weak transcription	NHDF-Ad	bronchial
37	chr7:17099000-17102400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr7:17099000-17102400	Weak transcription	HUVEC	blood vessel
39	chr7:17099200-17100200	Weak transcription	Dnd41	blood
40	chr7:17099200-17100400	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr7:17099400-17102400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr7:17100000-17102200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr7:17100000-17102400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr7:17100200-17100400	Enhancers	Dnd41	blood
45	chr7:17100400-17102200	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr7:17100400-17104600	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr7:17101200-17102800	Enhancers	NHDF-Ad	bronchial

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