Variant report

Variant	nsv977385
Chromosome Location	chr13:52918841-52936623
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:52917796..52919979-chr13:52922029..52924038,2	MCF-7	breast:
2	chr13:52917796..52919979-chr13:52922029..52924038,2	MCF-7	breast:
3	chr13:52917718..52921216-chr13:53022914..53025768,5	MCF-7	breast:
4	chr13:52921786..52923315-chr13:52926251..52928561,2	K562	blood:
5	chr13:52921786..52923315-chr13:52926251..52928561,2	K562	blood:
6	chr13:52917157..52919301-chr13:53024221..53025626,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136100	chromatin interactions

Extended variants
information (count: 675 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:675 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375591833	chr13:52918951-52918952	Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs569703612	chr13:52919000-52919001	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs550104925	chr13:52919003-52919004	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs142949116	chr13:52919006-52919007	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs538692377	chr13:52919025-52919026	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs7490919	chr13:52919065-52919066	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs200675372	chr13:52919069-52919070	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs571275415	chr13:52919084-52919085	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs533836072	chr13:52919086-52919087	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs553813673	chr13:52919092-52919093	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs541094707	chr13:52919149-52919150	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs181508769	chr13:52919220-52919221	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs542642961	chr13:52919226-52919227	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs11620275	chr13:52919348-52919349	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs75930507	chr13:52919357-52919358	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs186239337	chr13:52919404-52919405	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs544893450	chr13:52919406-52919407	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs139111953	chr13:52919420-52919421	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs61957975	chr13:52919424-52919425	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs527790004	chr13:52919442-52919443	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs541551863	chr13:52919480-52919481	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs144030644	chr13:52919595-52919596	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs57767269	chr13:52919619-52919620	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs534874788	chr13:52919621-52919622	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs373785182	chr13:52919630-52919631	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs59317237	chr13:52919671-52919672	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs190289069	chr13:52919681-52919682	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs140763861	chr13:52919735-52919736	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs552498566	chr13:52919754-52919755	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs566225634	chr13:52919870-52919871	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs534897091	chr13:52919890-52919891	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs553956725	chr13:52919903-52919904	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs563630380	chr13:52919993-52919994	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs536290780	chr13:52919994-52919995	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs556163710	chr13:52920016-52920017	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs143494155	chr13:52920060-52920061	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs545244041	chr13:52920089-52920090	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs558562155	chr13:52920099-52920100	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs377120930	chr13:52920101-52920102	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs145592527	chr13:52920106-52920107	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs540803374	chr13:52920139-52920140	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs148901968	chr13:52920142-52920143	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs561077391	chr13:52920153-52920154	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs550838586	chr13:52920176-52920177	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs570924025	chr13:52920180-52920181	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs111593369	chr13:52920191-52920192	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs115777103	chr13:52920203-52920204	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs543433964	chr13:52920234-52920235	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs563295035	chr13:52920236-52920237	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs143571066	chr13:52920238-52920239	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:110)

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
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	16774939	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	19242612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	17245344	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Multiple myeloma	19135901	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Prostate cancer	16461572	CNVD
Merkel cell carcinoma	19020549	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21858162	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	17237825	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Gastric cancer	17908304	CNVD
Breast cancer	18852474	CNVD
Myelofibrosis	22110671	CNVD
craniofacial dysmorphism	21918468	CNVD
Glioblastoma multiforme	22286061	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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:215 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:52917600-52920400	Enhancers	Osteobl	bone
2	chr13:52917800-52920400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr13:52917800-52922000	Weak transcription	A549	lung
4	chr13:52918000-52919000	Weak transcription	HUVEC	blood vessel
5	chr13:52918000-52919200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr13:52918200-52919200	Weak transcription	NH-A	brain
7	chr13:52918200-52920400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr13:52918200-52920600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr13:52918400-52920600	Enhancers	Muscle Satellite Cultured Cells	--
10	chr13:52918600-52919000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr13:52918600-52919400	Weak transcription	NHDF-Ad	bronchial
12	chr13:52918600-52919600	Enhancers	NHLF	lung
13	chr13:52918600-52919800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr13:52918600-52920000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr13:52918800-52919200	Enhancers	NHEK	skin
16	chr13:52918800-52920400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr13:52918800-52920800	Enhancers	HSMMtube	muscle
18	chr13:52918800-52924000	Enhancers	HSMM	muscle
19	chr13:52918800-52924400	Enhancers	HMEC	breast
20	chr13:52919000-52919200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr13:52919000-52919200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr13:52919000-52920400	Enhancers	HUVEC	blood vessel
23	chr13:52919200-52919600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr13:52919200-52920000	Flanking Active TSS	NHEK	skin
25	chr13:52919200-52920400	Enhancers	NH-A	brain
26	chr13:52919200-52921800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr13:52919200-52922200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr13:52919400-52919600	Enhancers	NHDF-Ad	bronchial
29	chr13:52919600-52921800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr13:52919600-52921800	Weak transcription	NHDF-Ad	bronchial
31	chr13:52919600-52921800	Weak transcription	NHLF	lung
32	chr13:52919800-52920400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr13:52919800-52920400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr13:52919800-52921800	Weak transcription	Fetal Muscle Leg	muscle
35	chr13:52920000-52920200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr13:52920000-52920400	Enhancers	NHEK	skin
37	chr13:52920000-52924400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr13:52920400-52921400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr13:52920400-52921600	Weak transcription	NH-A	brain
40	chr13:52920400-52921600	Weak transcription	Osteobl	bone
41	chr13:52920400-52921800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr13:52920400-52922000	Weak transcription	HUVEC	blood vessel
43	chr13:52920400-52922200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr13:52920400-52922200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr13:52920400-52922200	Weak transcription	NHEK	skin
46	chr13:52920400-52922800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr13:52920600-52921000	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr13:52920600-52921600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr13:52920800-52921200	Weak transcription	HSMMtube	muscle
50	chr13:52921000-52921800	Enhancers	Muscle Satellite Cultured Cells	--

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