Variant report

Variant	nsv436977
Chromosome Location	chr5:8699765-8749282
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	chr15:63747394..63747975-chr5:8748090..8749028,2	MCF-7	breast:

Extended variants
information (count: 975 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:975 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200001	chr5:8699765-8699766	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs573736699	chr5:8699767-8699768	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs542834084	chr5:8699785-8699786	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs555958977	chr5:8699796-8699797	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs114823971	chr5:8699807-8699808	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs563925691	chr5:8699817-8699818	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs188712982	chr5:8699819-8699820	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs180681908	chr5:8699833-8699834	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs186074620	chr5:8699843-8699844	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs540561977	chr5:8699847-8699848	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs190943293	chr5:8699891-8699892	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs529445321	chr5:8699906-8699907	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs139200261	chr5:8699909-8699910	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs561416674	chr5:8699956-8699957	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs569481994	chr5:8699961-8699962	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs531386500	chr5:8699989-8699990	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529078356	chr5:8700011-8700012	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200494402	chr5:8700042-8700043	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs184001886	chr5:8700063-8700064	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs571252022	chr5:8700064-8700065	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs546358626	chr5:8700112-8700113	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200000	chr5:8700123-8700124	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs553758878	chr5:8700152-8700153	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs376403011	chr5:8700155-8700156	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs536167921	chr5:8700162-8700163	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs9313252	chr5:8700164-8700165	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs575837728	chr5:8700189-8700190	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs544299197	chr5:8700198-8700199	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs557873731	chr5:8700222-8700223	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs370505969	chr5:8700233-8700234	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs577944067	chr5:8700262-8700263	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs187326396	chr5:8700266-8700267	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs190396350	chr5:8700299-8700300	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs529557444	chr5:8700329-8700330	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs182944964	chr5:8700330-8700331	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs186868622	chr5:8700360-8700361	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs60308470	chr5:8700385-8700386	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200339198	chr5:8700386-8700387	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs144428394	chr5:8700401-8700402	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191703978	chr5:8700403-8700404	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs112244744	chr5:8700413-8700414	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs199999	chr5:8700487-8700488	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs183155573	chr5:8700499-8700500	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs551485322	chr5:8700506-8700507	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs571392355	chr5:8700509-8700510	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs527414467	chr5:8700625-8700626	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs547332912	chr5:8700705-8700706	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs187793624	chr5:8700713-8700714	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs148486744	chr5:8700762-8700763	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs556087071	chr5:8700769-8700770	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

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

Chromatin state (count:60 , 50 per page) page: 1 2

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

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