Variant report

Variant	nsv970516
Chromosome Location	chr7:66062790-66064547
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 81 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537394426	chr7:66062791-66062792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs556897472	chr7:66062797-66062798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs560394861	chr7:66062802-66062803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs10258739	chr7:66062935-66062936	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs535909344	chr7:66062944-66062945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs552673591	chr7:66062964-66062965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs572654450	chr7:66062991-66062992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs537378173	chr7:66063016-66063017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs200161140	chr7:66063041-66063042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs545197137	chr7:66063049-66063050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs532002659	chr7:66063051-66063052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs10272357	chr7:66063074-66063075	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs575490867	chr7:66063080-66063081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs139270822	chr7:66063106-66063107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs183100688	chr7:66063145-66063146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs574095914	chr7:66063164-66063165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543115086	chr7:66063168-66063169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187440165	chr7:66063171-66063172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs12539116	chr7:66063173-66063174	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs528621604	chr7:66063206-66063207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs149986948	chr7:66063258-66063259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs547803841	chr7:66063270-66063271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs377384400	chr7:66063277-66063278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551008008	chr7:66063312-66063313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs567410551	chr7:66063364-66063365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs145150989	chr7:66063368-66063369	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
27	rs548720215	chr7:66063369-66063370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs10265311	chr7:66063416-66063417	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs10262184	chr7:66063427-66063428	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs566218822	chr7:66063440-66063441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs369761030	chr7:66063485-66063486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs192851059	chr7:66063488-66063489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs12539696	chr7:66063498-66063499	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs575380723	chr7:66063500-66063501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs538106202	chr7:66063532-66063533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs147628107	chr7:66063547-66063548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs142147702	chr7:66063558-66063559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs574034457	chr7:66063594-66063595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs533547705	chr7:66063600-66063601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs543035641	chr7:66063630-66063631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs559833893	chr7:66063635-66063636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs573268818	chr7:66063670-66063671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs146229095	chr7:66063704-66063705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs565443690	chr7:66063727-66063728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs531034630	chr7:66063751-66063752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs550816476	chr7:66063767-66063768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs561256457	chr7:66063780-66063781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs35465779	chr7:66063815-66063816	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs377243596	chr7:66063816-66063817	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs60871447	chr7:66063848-66063849	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	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
Autism	22495311	CNVD
Follicular lymphoma	20505157	CNVD
Biliary cancer	19435499	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Glioblastoma	21080181	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Prostate cancer	18632612	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66057600-66067600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:66058000-66067600	Weak transcription	Lung	lung
3	chr7:66058200-66067000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr7:66058200-66068800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr7:66058600-66062800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr7:66061600-66062800	Enhancers	Fetal Intestine Small	intestine
7	chr7:66061600-66063000	Enhancers	Fetal Intestine Large	intestine
8	chr7:66061600-66063000	Enhancers	HepG2	liver
9	chr7:66062000-66062800	Enhancers	Colonic Mucosa	Colon
10	chr7:66063000-66063400	Weak transcription	HepG2	liver
11	chr7:66063400-66063800	Enhancers	HepG2	liver
12	chr7:66063800-66064000	Flanking Active TSS	HepG2	liver
13	chr7:66064000-66064400	Active TSS	HepG2	liver
14	chr7:66064400-66064600	Enhancers	HepG2	liver

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