Variant report

Variant	nsv981787
Chromosome Location	chr7:26916457-26935351
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	chr7:26904389..26906061-chr7:26918491..26920218,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000005020	chromatin interactions

Extended variants
information (count: 202 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:202 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548494385	chr7:26918497-26918498	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs375591171	chr7:26918502-26918503	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs553206689	chr7:26918517-26918518	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs77348566	chr7:26918564-26918565	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs535598942	chr7:26918569-26918570	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs555266481	chr7:26918587-26918588	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs186047442	chr7:26918628-26918629	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs544305128	chr7:26918639-26918640	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs118188573	chr7:26918669-26918670	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs146665009	chr7:26918673-26918674	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs546181407	chr7:26918705-26918706	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs559955368	chr7:26918710-26918711	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs528771781	chr7:26918727-26918728	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs111232763	chr7:26918900-26918901	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs80070995	chr7:26918938-26918939	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs530947872	chr7:26919017-26919018	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs550628266	chr7:26919043-26919044	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs143701006	chr7:26919059-26919060	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs533111480	chr7:26919138-26919139	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs73280773	chr7:26919151-26919152	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs566801934	chr7:26919160-26919161	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs371271476	chr7:26919213-26919214	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs112895413	chr7:26919369-26919370	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs191373918	chr7:26919379-26919380	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs374896670	chr7:26919392-26919393	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs141824592	chr7:26919431-26919432	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs557838761	chr7:26919482-26919483	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs73683579	chr7:26919534-26919535	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs377077253	chr7:26919563-26919564	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs181127067	chr7:26919687-26919688	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs553486092	chr7:26919690-26919691	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs145001875	chr7:26919710-26919711	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs186007672	chr7:26919712-26919713	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs561962078	chr7:26919755-26919756	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs530982818	chr7:26919912-26919913	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs544305238	chr7:26919972-26919973	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs564204096	chr7:26919981-26919982	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs562811021	chr7:26921054-26921055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531633782	chr7:26921060-26921061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs555590904	chr7:26921088-26921089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs369302299	chr7:26921094-26921095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs213532	chr7:26921107-26921108	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs571338420	chr7:26921270-26921271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533904919	chr7:26921272-26921273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs35518560	chr7:26921280-26921281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545707857	chr7:26921327-26921328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs372441133	chr7:26921329-26921330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs547149650	chr7:26921377-26921378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs372916860	chr7:26921434-26921435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs535834411	chr7:26921435-26921436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
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
Melanoma	18172304	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
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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
abnormal development	18461090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Lung adenocarcinoma	17086460	CNVD
Colorectal cancer	19455253	CNVD
Lung cancer	17086460	CNVD
Breast cancer	18852474	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26921000-26924800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:26930800-26931800	Enhancers	Muscle Satellite Cultured Cells	--
3	chr7:26931200-26931800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr7:26931200-26931800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr7:26931200-26931800	Enhancers	GM12878-XiMat	blood
6	chr7:26931200-26931800	Enhancers	NHEK	skin
7	chr7:26931400-26931600	Bivalent Enhancer	Fetal Lung	lung
8	chr7:26931400-26931800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr7:26931400-26931800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr7:26931400-26931800	Enhancers	NHDF-Ad	bronchial
11	chr7:26931400-26932000	Enhancers	HMEC	breast
12	chr7:26931400-26932000	Enhancers	NHLF	lung
13	chr7:26931400-26932000	Enhancers	Osteobl	bone
14	chr7:26931600-26931800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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