Variant report

Variant	nsv461931
Chromosome Location	chr5:8700487-8770185
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:8756767..8757357-chr5:9208108..9208626,2	MCF-7	breast:
2	chr15:63747394..63747975-chr5:8748090..8749028,2	MCF-7	breast:
3	chr5:8756316..8757349-chr5:9207756..9208446,4	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MTRR-16	chr5:8754981-8755271	NONHSAT100310
2	lnc-MTRR-16	chr5:8754981-8756996	NONHSAT100311

Extended variants
information (count: 1806 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:1806 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs199999	chr5:8700487-8700488	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs183155573	chr5:8700499-8700500	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs551485322	chr5:8700506-8700507	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs571392355	chr5:8700509-8700510	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs527414467	chr5:8700625-8700626	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs547332912	chr5:8700705-8700706	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs187793624	chr5:8700713-8700714	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs148486744	chr5:8700762-8700763	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs556087071	chr5:8700769-8700770	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs569508284	chr5:8700790-8700791	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs538481453	chr5:8700802-8700803	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs557810479	chr5:8700807-8700808	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs578024919	chr5:8700818-8700819	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs568546036	chr5:8700824-8700825	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs534050174	chr5:8700827-8700828	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs141766915	chr5:8700833-8700834	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs573996737	chr5:8700838-8700839	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs543332942	chr5:8700843-8700844	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs115654857	chr5:8700866-8700867	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs192424259	chr5:8700902-8700903	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs148061861	chr5:8700948-8700949	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs545588993	chr5:8700951-8700952	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs557583033	chr5:8700954-8700955	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs111285630	chr5:8700977-8700978	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs527337909	chr5:8700990-8700991	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs547182115	chr5:8701016-8701017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs557260537	chr5:8701025-8701026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs185569286	chr5:8701048-8701049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs536917922	chr5:8701093-8701094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs549651041	chr5:8701144-8701145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs569643787	chr5:8701161-8701162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs538569808	chr5:8701162-8701163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs116174330	chr5:8701180-8701181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs115000112	chr5:8701248-8701249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs79362802	chr5:8701266-8701267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs189524371	chr5:8701313-8701314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs114162350	chr5:8701351-8701352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs199998	chr5:8701366-8701367	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs577226896	chr5:8701416-8701417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs576774284	chr5:8701417-8701418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs117177815	chr5:8701432-8701433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs36117083	chr5:8701437-8701438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs565427793	chr5:8701478-8701479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs150563287	chr5:8701498-8701499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs558391184	chr5:8701538-8701539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs191992552	chr5:8701540-8701541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs544201055	chr5:8701562-8701563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs572769851	chr5:8701563-8701564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs560856155	chr5:8701601-8701602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs529621350	chr5:8701610-8701611	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

Disease	PMID	Source
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
abnormal development	18461090	CNVD
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	17550852	CNVD
Developmental delay	21147756	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Breast cancer	21858162	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Melanoma	22183965	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	22495311	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Urothelial carcinoma	21177765	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Ovarian cancer	19193619	CNVD
Hepatocellular carcinoma	16785998	CNVD
Cancer	22183965	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Intellectual disability	22102821	CNVD
Myelofibrosis	22110671	CNVD
Cri-du chat syndrome	16773131	CNVD
Cryptorchidism	21048976	CNVD
Glioblastoma multiforme	22286061	CNVD
Cervical cancer	16585170	CNVD
Mental retardation	16773131	CNVD
Non-small cell lung cancer	21829676	CNVD
Cri-du chat syndrome	22470819	CNVD
sporadic birth defects	19047251	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:8696800-8700800	Weak transcription	Fetal Stomach	stomach
2	chr5:8699600-8702200	Enhancers	Fetal Lung	lung
3	chr5:8700000-8701800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr5:8700400-8700600	Enhancers	NHLF	lung
5	chr5:8700400-8701600	Enhancers	Fetal Muscle Leg	muscle
6	chr5:8700400-8701600	Enhancers	Ovary	ovary
7	chr5:8700600-8701000	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr5:8700600-8701000	Flanking Active TSS	NHLF	lung
9	chr5:8700800-8701800	Enhancers	Fetal Stomach	stomach
10	chr5:8701000-8701800	Enhancers	NHLF	lung
11	chr5:8702200-8710600	Weak transcription	Fetal Lung	lung
12	chr5:8710600-8711800	Enhancers	Fetal Lung	lung
13	chr5:8717600-8718000	Active TSS	Right Ventricle	heart
14	chr5:8721000-8722200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr5:8722200-8727200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr5:8723400-8726400	Enhancers	Dnd41	blood
17	chr5:8725400-8730200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr5:8726400-8726600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr5:8726400-8726800	Flanking Active TSS	Dnd41	blood
20	chr5:8726600-8726800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr5:8726600-8727200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr5:8726600-8728200	Enhancers	Fetal Stomach	stomach
23	chr5:8726800-8727000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr5:8726800-8727400	Enhancers	Dnd41	blood
25	chr5:8727000-8728000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr5:8727200-8727400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr5:8727200-8727600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr5:8727400-8727800	Active TSS	Osteobl	bone
29	chr5:8727400-8728200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr5:8727400-8728400	Flanking Active TSS	Dnd41	blood
31	chr5:8727600-8727800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr5:8727600-8728000	Active TSS	NHDF-Ad	bronchial
33	chr5:8727800-8728000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr5:8727800-8728200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr5:8727800-8728200	Flanking Active TSS	Osteobl	bone
36	chr5:8727800-8728400	Enhancers	Fetal Lung	lung
37	chr5:8727800-8728800	Enhancers	NHLF	lung
38	chr5:8728000-8728800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr5:8728000-8728800	Enhancers	NHDF-Ad	bronchial
40	chr5:8728000-8729000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr5:8728200-8728800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr5:8728200-8730800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr5:8728200-8730800	Enhancers	Osteobl	bone
44	chr5:8728400-8729400	Enhancers	Dnd41	blood
45	chr5:8728800-8730000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr5:8728800-8730000	Weak transcription	NHDF-Ad	bronchial
47	chr5:8728800-8730000	Weak transcription	NHLF	lung
48	chr5:8728800-8730200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr5:8729000-8730400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr5:8729000-8730400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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