Variant report

Variant	nsv1021494
Chromosome Location	chr7:19589814-19610128
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	chr1:102456863..102457700-chr7:19592037..19592862,2	MCF-7	breast:
2	chr7:18732759..18733606-chr7:19591000..19591516,2	MCF-7	breast:

Extended variants
information (count: 940 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:940 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4721788	chr7:19589814-19589815	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs535310587	chr7:19589823-19589824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs551659789	chr7:19589901-19589902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs35410999	chr7:19589938-19589939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs190287727	chr7:19589941-19589942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs79524273	chr7:19589953-19589954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs12537939	chr7:19590122-19590123	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs139889893	chr7:19590134-19590135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs573708925	chr7:19590136-19590137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs537926968	chr7:19590167-19590168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs149895374	chr7:19590184-19590185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs116872905	chr7:19590247-19590248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs369460619	chr7:19590250-19590251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs544976362	chr7:19590328-19590329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs200719317	chr7:19590345-19590346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs140135480	chr7:19590346-19590347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs2215859	chr7:19590347-19590348	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs377378055	chr7:19590373-19590374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs185993053	chr7:19590378-19590379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs542832291	chr7:19590453-19590454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs73084690	chr7:19590472-19590473	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs529386411	chr7:19590544-19590545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs553278536	chr7:19590577-19590578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs146459812	chr7:19590579-19590580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs373747586	chr7:19590616-19590617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs74437758	chr7:19590639-19590640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs555806527	chr7:19590678-19590679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs551453678	chr7:19590688-19590689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs567176449	chr7:19590715-19590716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs376713049	chr7:19590747-19590748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs527957845	chr7:19590748-19590749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs549589058	chr7:19590758-19590759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200288427	chr7:19590764-19590765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567853636	chr7:19590787-19590788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs572417763	chr7:19590793-19590794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs568312111	chr7:19590814-19590815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs192151193	chr7:19590826-19590827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs556298212	chr7:19590874-19590875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs16872318	chr7:19590889-19590890	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs538657557	chr7:19590905-19590906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs140776285	chr7:19590906-19590907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs369931132	chr7:19590934-19590935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs550521722	chr7:19590939-19590940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs371643053	chr7:19590940-19590941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs572336722	chr7:19590945-19590946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs114431952	chr7:19590946-19590947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs12700061	chr7:19590947-19590948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs35094086	chr7:19590948-19590949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs543172772	chr7:19590955-19590956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs66584548	chr7:19590967-19590968	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:81)

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
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
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
Autism	20808228	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:19580200-19597400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:19592000-19592800	Enhancers	Muscle Satellite Cultured Cells	--
3	chr7:19593800-19595000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr7:19594200-19595000	Enhancers	Colon Smooth Muscle	Colon
5	chr7:19594800-19595000	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr7:19595000-19597200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr7:19596000-19596400	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
8	chr7:19596400-19596800	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr7:19596800-19597600	Enhancers	Muscle Satellite Cultured Cells	--
10	chr7:19597000-19597800	Enhancers	HSMM	muscle
11	chr7:19597200-19598800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr7:19597200-19599600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr7:19597200-19601400	Enhancers	HMEC	breast
14	chr7:19597400-19598200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr7:19597400-19598800	Enhancers	NHDF-Ad	bronchial
16	chr7:19597400-19599200	Enhancers	Osteobl	bone
17	chr7:19597400-19600400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr7:19597400-19601400	Enhancers	HSMMtube	muscle
19	chr7:19597600-19598200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
20	chr7:19597600-19601000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr7:19597800-19598200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr7:19597800-19598200	Flanking Active TSS	HSMM	muscle
23	chr7:19597800-19599000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr7:19597800-19599000	Enhancers	NH-A	brain
25	chr7:19597800-19599000	Enhancers	NHEK	skin
26	chr7:19597800-19599200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr7:19597800-19602000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr7:19598000-19598200	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr7:19598200-19598600	Enhancers	Muscle Satellite Cultured Cells	--
30	chr7:19598200-19599000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr7:19598200-19599000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr7:19598200-19599800	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr7:19598200-19601600	Enhancers	HSMM	muscle
34	chr7:19598600-19598800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
35	chr7:19598800-19599800	Enhancers	Muscle Satellite Cultured Cells	--
36	chr7:19598800-19599800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr7:19598800-19599800	Weak transcription	NHDF-Ad	bronchial
38	chr7:19599000-19599200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr7:19599000-19599400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr7:19599000-19600200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr7:19599000-19600400	Weak transcription	NHEK	skin
42	chr7:19599200-19599600	Weak transcription	Osteobl	bone
43	chr7:19599200-19599800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr7:19599200-19599800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr7:19599400-19599600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr7:19599400-19601400	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr7:19599600-19600400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr7:19599600-19600800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr7:19599600-19601200	Enhancers	Osteobl	bone
50	chr7:19599800-19600000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links