Variant report

Variant	nsv1018247
Chromosome Location	chr5:119469805-119511846
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	chr5:119490690..119493114-chr7:5464157..5466979,2	MCF-7	breast:
2	chr5:119457407..119460056-chr5:119489321..119491015,2	K562	blood:

Variant related genes	Relation type
ENSG00000182095	chromatin interactions
ENSG00000272953	chromatin interactions

Extended variants
information (count: 1294 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:1294 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs41447148	chr5:119469805-119469806	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs58982659	chr5:119469821-119469822	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs530136841	chr5:119469876-119469877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs351123	chr5:119469925-119469926	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs562926193	chr5:119469951-119469952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs148882801	chr5:119469962-119469963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568354910	chr5:119469980-119469981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs551664855	chr5:119470002-119470003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs184653131	chr5:119470018-119470019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs533930363	chr5:119470019-119470020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs80245078	chr5:119470020-119470021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs567242334	chr5:119470060-119470061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs536384307	chr5:119470065-119470066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535677047	chr5:119470093-119470094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs547289656	chr5:119470104-119470105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs187479375	chr5:119470142-119470143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs143579255	chr5:119470173-119470174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs79051328	chr5:119470218-119470219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs575668015	chr5:119470263-119470264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546165569	chr5:119470287-119470288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs558211463	chr5:119470366-119470367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs138211091	chr5:119470378-119470379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192074149	chr5:119470398-119470399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553979954	chr5:119470404-119470405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574029036	chr5:119470421-119470422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs375562042	chr5:119470454-119470455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs184126621	chr5:119470470-119470471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs141954852	chr5:119470503-119470504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs573171482	chr5:119470504-119470505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs565177068	chr5:119470559-119470560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs145817785	chr5:119470587-119470588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs189681838	chr5:119470589-119470590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs560799160	chr5:119470702-119470703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs192330471	chr5:119470735-119470736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs561974040	chr5:119470746-119470747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs138711495	chr5:119470772-119470773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs538242852	chr5:119470807-119470808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs558168906	chr5:119470839-119470840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs6866287	chr5:119470842-119470843	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs41379746	chr5:119470847-119470848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs17146149	chr5:119470864-119470865	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs6866827	chr5:119470912-119470913	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs542861316	chr5:119470915-119470916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs184343843	chr5:119471009-119471010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs115838381	chr5:119471011-119471012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs141221355	chr5:119471031-119471032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs190444422	chr5:119471044-119471045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs527562923	chr5:119471048-119471049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs376526196	chr5:119471068-119471069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs182028968	chr5:119471073-119471074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD

Chromatin state (count:175 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119468600-119472000	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr5:119469000-119473200	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr5:119469200-119473400	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr5:119471200-119471600	Enhancers	Ovary	ovary
5	chr5:119471400-119472000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr5:119471600-119473400	Weak transcription	Ovary	ovary
7	chr5:119471800-119472000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr5:119472000-119472200	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr5:119472000-119473200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr5:119472200-119472600	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr5:119472400-119474400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr5:119472600-119477400	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr5:119473200-119474400	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr5:119473200-119474800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr5:119473200-119480600	Weak transcription	Pancreas	Pancrea
16	chr5:119473400-119473600	ZNF genes & repeats	Placenta	Placenta
17	chr5:119473400-119473600	Enhancers	Left Ventricle	heart
18	chr5:119473400-119473800	Enhancers	Aorta	Aorta
19	chr5:119473400-119474400	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr5:119473400-119474800	Enhancers	Ovary	ovary
21	chr5:119473600-119474200	Weak transcription	Placenta	Placenta
22	chr5:119473800-119475400	Weak transcription	Aorta	Aorta
23	chr5:119473800-119476400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr5:119474000-119476000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr5:119474200-119474400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr5:119474200-119474400	Enhancers	Placenta	Placenta
27	chr5:119474200-119474400	Enhancers	Left Ventricle	heart
28	chr5:119474200-119475200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr5:119474200-119475600	Enhancers	Muscle Satellite Cultured Cells	--
30	chr5:119474200-119475600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr5:119474200-119476600	Enhancers	Hela-S3	cervix
32	chr5:119474200-119476600	Enhancers	NHLF	lung
33	chr5:119474200-119477400	Enhancers	NHDF-Ad	bronchial
34	chr5:119474200-119477600	Enhancers	Fetal Lung	lung
35	chr5:119474400-119474600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr5:119474400-119474600	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr5:119474400-119474600	Enhancers	HSMM	muscle
38	chr5:119474400-119474800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
39	chr5:119474400-119474800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr5:119474400-119474800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
41	chr5:119474400-119475200	Enhancers	NH-A	brain
42	chr5:119474400-119475400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr5:119474400-119475400	Enhancers	Adipose Nuclei	Adipose
44	chr5:119474400-119475400	Weak transcription	Placenta	Placenta
45	chr5:119474400-119475400	Enhancers	Osteobl	bone
46	chr5:119474400-119475600	Enhancers	Liver	Liver
47	chr5:119474400-119475600	Enhancers	A549	lung
48	chr5:119474400-119476800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr5:119474600-119475000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr5:119474800-119475200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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