Variant report

Variant	nsv1045733
Chromosome Location	chr13:51187575-51217464
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:51203846..51206434-chr13:51207339..51209501,2	K562	blood:
2	chr13:51191287..51192925-chr13:51194826..51197754,2	K562	blood:
3	chr13:51216555..51218966-chr13:51222987..51226274,3	K562	blood:
4	chr13:51203846..51206434-chr13:51207339..51209501,2	K562	blood:
5	chr13:51191287..51192925-chr13:51194826..51197754,2	K562	blood:
6	chr13:50696839..50701708-chr13:51215562..51219083,4	MCF-7	breast:
7	chr13:51211431..51214240-chr13:51220599..51223309,2	K562	blood:
8	chr13:51186188..51187899-chr13:51538381..51540074,2	K562	blood:
9	chr13:50698527..50700047-chr13:51217397..51220147,2	MCF-7	breast:
10	chr13:51188683..51191307-chr13:51240067..51242505,2	MCF-7	breast:
11	chr13:51185399..51188219-chr13:51502643..51505475,2	K562	blood:
12	chr13:51216821..51219779-chr13:51224555..51226364,2	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RNASEH2B-3	chr13:51205413-51205735	XLOC_010390

No data

Variant related genes	Relation type
ENSG00000136104	chromatin interactions
ENSG00000231607	chromatin interactions

Extended variants
information (count: 940 )
Associated
traits (count: 122 )

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	rs628413	chr13:51187575-51187576	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs140542051	chr13:51187586-51187587	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs557355888	chr13:51187650-51187651	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs575537138	chr13:51187660-51187661	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs546161828	chr13:51187687-51187688	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs190238964	chr13:51187693-51187694	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs528296684	chr13:51187694-51187695	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs144698133	chr13:51187697-51187698	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs151286302	chr13:51187732-51187733	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs528952705	chr13:51187879-51187880	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs139248268	chr13:51187888-51187889	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs562537460	chr13:51187929-51187930	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs532755005	chr13:51188019-51188020	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs552497323	chr13:51188032-51188033	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs181888434	chr13:51188072-51188073	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs640923	chr13:51188095-51188096	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs9568454	chr13:51188132-51188133	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs184862191	chr13:51188190-51188191	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs568540403	chr13:51188268-51188269	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs535981613	chr13:51188294-51188295	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs557167982	chr13:51188311-51188312	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs149986267	chr13:51188326-51188327	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs539799018	chr13:51188404-51188405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs145382507	chr13:51188415-51188416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs573138363	chr13:51188430-51188431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs141450970	chr13:51188441-51188442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs561947110	chr13:51188481-51188482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs145090617	chr13:51188494-51188495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs146843452	chr13:51188565-51188566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs562438893	chr13:51188566-51188567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532776036	chr13:51188577-51188578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs537933922	chr13:51188579-51188580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs557512967	chr13:51188589-51188590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs74623351	chr13:51188615-51188616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs550929027	chr13:51188635-51188636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs375348008	chr13:51188640-51188641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs564462174	chr13:51188663-51188664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs2110763	chr13:51188683-51188684	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs370346629	chr13:51188713-51188714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs534231697	chr13:51188715-51188716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs11364473	chr13:51188757-51188758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs10710241	chr13:51188767-51188768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs554473355	chr13:51188779-51188780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs568681446	chr13:51188787-51188788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs535669190	chr13:51188847-51188848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs116017864	chr13:51188874-51188875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs140680513	chr13:51188887-51188888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs189583023	chr13:51188911-51188912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs558153776	chr13:51188912-51188913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs143078978	chr13:51188918-51188919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:122)

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
Trisomy	24170809	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
Retinoblastoma	21504564	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Mental retardation	17502991	CNVD
Retinoblastoma	17502991	CNVD
Bipolar disorder	18458673	CNVD
Liposarcoma	21253554	CNVD
T-cell lymphomas	19863542	CNVD
Cervical cancer	21062161	CNVD
microdeletion syndrome	19284877	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
Glioblastoma multiforme	19435819	CNVD
Invasive pancreatic ductal carcinoma	16982739	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
Myelofibrosis	22110671	CNVD
Hereditary prostate cancer	22028916	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Prostate cancer	17217626	CNVD
Ovarian cancer	21781307	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
Sezary syndrome	18413736	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21990379	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Gastric cancer	17908304	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:207 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51181800-51204600	Weak transcription	Pancreas	Pancrea
2	chr13:51184400-51188200	Enhancers	Fetal Thymus	thymus
3	chr13:51184600-51188400	Enhancers	K562	blood
4	chr13:51186000-51191200	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr13:51186400-51191000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr13:51186600-51187800	Weak transcription	Left Ventricle	heart
7	chr13:51186600-51188000	Enhancers	Fetal Muscle Leg	muscle
8	chr13:51186600-51190800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr13:51186600-51191000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr13:51187000-51188400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr13:51187000-51190200	Weak transcription	Dnd41	blood
12	chr13:51187000-51190800	Weak transcription	Primary B cells from cord blood	blood
13	chr13:51187000-51191200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr13:51187000-51191400	Weak transcription	Thymus	Thymus
15	chr13:51187200-51188400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr13:51187200-51190800	Weak transcription	Primary B cells from peripheral blood	blood
17	chr13:51187400-51188200	Enhancers	Fetal Kidney	kidney
18	chr13:51187400-51188400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr13:51187600-51188000	Enhancers	Fetal Heart	heart
20	chr13:51187600-51188000	Enhancers	Fetal Stomach	stomach
21	chr13:51187600-51188000	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr13:51187600-51188400	Enhancers	NHDF-Ad	bronchial
23	chr13:51187800-51188000	Enhancers	Left Ventricle	heart
24	chr13:51187800-51188000	Enhancers	Osteobl	bone
25	chr13:51188200-51188600	Weak transcription	Fetal Thymus	thymus
26	chr13:51188200-51189800	Weak transcription	Osteobl	bone
27	chr13:51188400-51190200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr13:51188400-51190200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr13:51188400-51190200	Weak transcription	NHDF-Ad	bronchial
30	chr13:51188400-51190800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr13:51188400-51191200	Weak transcription	K562	blood
32	chr13:51188600-51189400	Enhancers	Fetal Thymus	thymus
33	chr13:51189400-51190400	Weak transcription	Fetal Thymus	thymus
34	chr13:51189800-51192600	Enhancers	Osteobl	bone
35	chr13:51190200-51190400	Enhancers	Dnd41	blood
36	chr13:51190200-51192200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr13:51190200-51192600	Enhancers	HUVEC	blood vessel
38	chr13:51190200-51192800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr13:51190200-51192800	Enhancers	NHDF-Ad	bronchial
40	chr13:51190400-51190800	Weak transcription	Dnd41	blood
41	chr13:51190400-51191600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr13:51190400-51191600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr13:51190400-51191600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr13:51190400-51191800	Enhancers	Fetal Thymus	thymus
45	chr13:51190400-51192600	Enhancers	Muscle Satellite Cultured Cells	--
46	chr13:51190600-51192400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr13:51190800-51191400	Enhancers	Right Atrium	heart
48	chr13:51190800-51191600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr13:51190800-51191800	Enhancers	Primary B cells from peripheral blood	blood
50	chr13:51190800-51191800	Enhancers	Primary hematopoietic stem cells	blood

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