Variant report

Variant	nsv971563
Chromosome Location	chr7:41154738-41162366
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	chr7:41085265..41086925-chr7:41153421..41155023,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C7orf10-1	chr7:41158565-41158881	XLOC_006059

Extended variants
information (count: 264 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:264 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542663945	chr7:41154740-41154741	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs367686491	chr7:41154758-41154759	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs554759691	chr7:41154770-41154771	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs143202088	chr7:41154800-41154801	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs543634844	chr7:41154805-41154806	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs114648419	chr7:41154874-41154875	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs532662890	chr7:41154900-41154901	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs73690459	chr7:41154944-41154945	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs560143435	chr7:41154945-41154946	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs527280964	chr7:41154974-41154975	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs549141878	chr7:41154982-41154983	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs567233835	chr7:41155022-41155023	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs370447275	chr7:41155031-41155032	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs531560896	chr7:41155042-41155043	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs184689821	chr7:41155068-41155069	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs376068363	chr7:41155082-41155083	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs187472001	chr7:41155102-41155103	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs116011782	chr7:41155124-41155125	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs144519744	chr7:41155125-41155126	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs577509715	chr7:41155149-41155150	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs565780915	chr7:41155236-41155237	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536235009	chr7:41155242-41155243	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs555076623	chr7:41155254-41155255	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576433666	chr7:41155300-41155301	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs544013429	chr7:41155339-41155340	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs558844716	chr7:41155341-41155342	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs577615484	chr7:41155353-41155354	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs541794721	chr7:41155377-41155378	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs192024135	chr7:41155434-41155435	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs560080319	chr7:41155464-41155465	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs572104767	chr7:41155581-41155582	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs71855323	chr7:41155638-41155639	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs555067643	chr7:41155641-41155642	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs3081309	chr7:41155660-41155661	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs530776901	chr7:41155663-41155664	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs184023480	chr7:41155696-41155697	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs372862334	chr7:41155709-41155710	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375455005	chr7:41155710-41155711	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs542620865	chr7:41155714-41155715	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs561059673	chr7:41155733-41155734	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs541611618	chr7:41155760-41155761	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs77158375	chr7:41155763-41155764	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs34099830	chr7:41155777-41155778	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs147995272	chr7:41155794-41155795	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs189385701	chr7:41155795-41155796	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs180988957	chr7:41155798-41155799	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs377140280	chr7:41155828-41155829	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs530084523	chr7:41155909-41155910	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs78850623	chr7:41156067-41156068	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs141635867	chr7:41156154-41156155	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:41129200-41175200	Weak transcription	Aorta	Aorta
2	chr7:41153200-41154800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:41153400-41156600	Enhancers	NHEK	skin
4	chr7:41153400-41156800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr7:41153400-41157200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr7:41153400-41158400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr7:41153400-41158400	Enhancers	HMEC	breast
8	chr7:41153800-41155800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr7:41154000-41154800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr7:41154600-41154800	Enhancers	Placenta Amnion	Placenta Amnion
11	chr7:41154600-41156200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr7:41154800-41161600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr7:41155800-41157400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr7:41156600-41157000	Enhancers	NH-A	brain
15	chr7:41156600-41157000	Flanking Active TSS	NHEK	skin
16	chr7:41156800-41157200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr7:41157000-41158200	Enhancers	NHEK	skin
18	chr7:41157200-41157600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr7:41157200-41158400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr7:41157400-41157800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr7:41157600-41158800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr7:41157800-41158400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr7:41158000-41158600	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr7:41158200-41160800	Weak transcription	NHEK	skin
25	chr7:41158400-41160800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr7:41158400-41160800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr7:41158400-41160800	Weak transcription	HMEC	breast
28	chr7:41158800-41161400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr7:41160600-41161000	Enhancers	Osteobl	bone
30	chr7:41160800-41161400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr7:41160800-41161600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr7:41160800-41161600	Enhancers	NHDF-Ad	bronchial
33	chr7:41160800-41162600	Enhancers	NHEK	skin
34	chr7:41160800-41162800	Enhancers	HMEC	breast
35	chr7:41161400-41161800	Enhancers	Fetal Kidney	kidney
36	chr7:41161400-41162400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr7:41161400-41162400	Enhancers	HSMM	muscle
38	chr7:41161400-41162600	Enhancers	HSMMtube	muscle
39	chr7:41161400-41162800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr7:41161600-41161800	Enhancers	Placenta Amnion	Placenta Amnion
41	chr7:41161600-41164200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr7:41161600-41164800	Weak transcription	NHDF-Ad	bronchial
43	chr7:41161800-41162200	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr7:41162200-41162600	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr7:41162200-41162600	Enhancers	Placenta Amnion	Placenta Amnion
46	chr7:41162200-41162800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr7:41162200-41163200	Enhancers	Primary neutrophils fromperipheralblood	blood

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