Variant report

Variant	nsv455921
Chromosome Location	chr13:66478225-66500873
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	chr13:66500564..66501578-chr13:66540848..66541721,3	MCF-7	breast:

Extended variants
information (count: 845 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:845 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573573985	chr13:66479414-66479415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs552877858	chr13:66479420-66479421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs546189744	chr13:66479427-66479428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs562784070	chr13:66479482-66479483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs531833302	chr13:66479508-66479509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs575648711	chr13:66479528-66479529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs540994581	chr13:66479546-66479547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs116952682	chr13:66479593-66479594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs112817321	chr13:66479627-66479628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs544391695	chr13:66479724-66479725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs374213816	chr13:66479736-66479737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs112605044	chr13:66479741-66479742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs9528999	chr13:66479744-66479745	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs540910516	chr13:66479778-66479779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs560804728	chr13:66479799-66479800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs532593237	chr13:66479804-66479805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs544696191	chr13:66479809-66479810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs188149054	chr13:66479829-66479830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs569360301	chr13:66479831-66479832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs530594023	chr13:66479848-66479849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs548424897	chr13:66479892-66479893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs1599300	chr13:66479958-66479959	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs535879147	chr13:66479969-66479970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs192569481	chr13:66479982-66479983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574506348	chr13:66480106-66480107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs56160922	chr13:66480123-66480124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs538560945	chr13:66480161-66480162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs182264770	chr13:66480192-66480193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs567820563	chr13:66480204-66480205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530596571	chr13:66480209-66480210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs575366691	chr13:66480262-66480263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs367613692	chr13:66480270-66480271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs73506803	chr13:66480276-66480277	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs146570306	chr13:66480279-66480280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187584613	chr13:66480280-66480281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs540677587	chr13:66480286-66480287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs192425245	chr13:66480356-66480357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs528496154	chr13:66480383-66480384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs8002371	chr13:66480391-66480392	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs571658114	chr13:66480426-66480427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184792639	chr13:66480452-66480453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs563070529	chr13:66480460-66480461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190224425	chr13:66480477-66480478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs550247731	chr13:66480516-66480517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs192980836	chr13:66480525-66480526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs140087835	chr13:66480532-66480533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs546143920	chr13:66480560-66480561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs566357871	chr13:66480563-66480564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs538894291	chr13:66480582-66480583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs200732691	chr13:66480596-66480597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Squamous cell cancer	20885788	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	17245344	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Merkel cell carcinoma	19020549	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21858162	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Breast cancer	17393978	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Colorectal cancer	16774939	CNVD
Adenoid cystic carcinoma	17372589	CNVD
abnormal development	18461090	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Prostate cancer	16461572	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Intellectual disability	21811512	CNVD
Colorectal cancer	21645411	CNVD
Melanoma	20877625	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:135 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:66479400-66479600	Enhancers	Aorta	Aorta
2	chr13:66479600-66481800	Weak transcription	Aorta	Aorta
3	chr13:66481800-66482000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr13:66481800-66482000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr13:66481800-66482000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr13:66481800-66482000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr13:66481800-66482000	ZNF genes & repeats	Aorta	Aorta
8	chr13:66481800-66482000	Enhancers	HMEC	breast
9	chr13:66482000-66482400	Enhancers	NH-A	brain
10	chr13:66482000-66482800	Weak transcription	Aorta	Aorta
11	chr13:66482000-66485800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr13:66482000-66486000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr13:66482000-66486200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr13:66482200-66483200	Weak transcription	HMEC	breast
15	chr13:66482400-66482800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr13:66482600-66483000	Enhancers	NH-A	brain
17	chr13:66482800-66483000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr13:66482800-66483600	ZNF genes & repeats	Aorta	Aorta
19	chr13:66483200-66483800	Enhancers	HMEC	breast
20	chr13:66483200-66485800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr13:66483600-66487200	Weak transcription	Aorta	Aorta
22	chr13:66483800-66485800	Weak transcription	HMEC	breast
23	chr13:66485400-66490000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr13:66485600-66487000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr13:66485600-66487200	Enhancers	Muscle Satellite Cultured Cells	--
26	chr13:66485600-66487200	Enhancers	HUVEC	blood vessel
27	chr13:66485600-66489600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr13:66485800-66486400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr13:66485800-66486400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr13:66485800-66487200	Enhancers	Osteobl	bone
31	chr13:66485800-66488200	Enhancers	HSMMtube	muscle
32	chr13:66485800-66489600	Enhancers	HSMM	muscle
33	chr13:66485800-66489800	Enhancers	HMEC	breast
34	chr13:66485800-66489800	Enhancers	NHDF-Ad	bronchial
35	chr13:66486000-66488400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr13:66486000-66488400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr13:66486200-66486400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr13:66486200-66488000	Enhancers	Adipose Nuclei	Adipose
39	chr13:66486200-66489600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr13:66486200-66489600	Enhancers	NHEK	skin
41	chr13:66486200-66489800	Enhancers	NHLF	lung
42	chr13:66486400-66486800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr13:66486400-66486800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr13:66486400-66487200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr13:66486600-66487600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr13:66486600-66488200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr13:66486800-66488800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr13:66486800-66489600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr13:66487000-66487400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr13:66487000-66487600	Enhancers	NH-A	brain

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