Variant report

Variant	nsv818363
Chromosome Location	chr5:99898851-99906222
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	chr5:99901928..99904752-chr5:99911773..99913756,2	MCF-7	breast:

Extended variants
information (count: 274 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:274 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs247938	chr5:99898851-99898852	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs146130581	chr5:99898883-99898884	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs538172396	chr5:99898885-99898886	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs574111431	chr5:99898944-99898945	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs247937	chr5:99898954-99898955	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs192235323	chr5:99898979-99898980	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs578122769	chr5:99898986-99898987	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs140158539	chr5:99899019-99899020	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs80058730	chr5:99899043-99899044	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs138368286	chr5:99899077-99899078	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs530538932	chr5:99899096-99899097	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs373151159	chr5:99899104-99899105	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs531098163	chr5:99899105-99899106	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs55813587	chr5:99899110-99899111	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs397933588	chr5:99899116-99899117	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs542340360	chr5:99899118-99899119	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs72774695	chr5:99899157-99899158	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs539116359	chr5:99899177-99899178	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs184742961	chr5:99899180-99899181	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs546484432	chr5:99899278-99899279	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs571454132	chr5:99899300-99899301	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs113304620	chr5:99899318-99899319	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs550516848	chr5:99899371-99899372	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs146298677	chr5:99899450-99899451	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs537521809	chr5:99899457-99899458	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs188069506	chr5:99899467-99899468	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs567656243	chr5:99899482-99899483	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs370856973	chr5:99899511-99899512	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs376287220	chr5:99899526-99899527	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs371910094	chr5:99899575-99899576	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs535066690	chr5:99899603-99899604	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs192529443	chr5:99899616-99899617	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs181740445	chr5:99899630-99899631	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs78596035	chr5:99899690-99899691	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs545550953	chr5:99899695-99899696	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs557249325	chr5:99899708-99899709	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs575826773	chr5:99899714-99899715	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs566700534	chr5:99899748-99899749	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs247936	chr5:99899776-99899777	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs377283592	chr5:99899841-99899842	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs560693860	chr5:99899843-99899844	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs528030063	chr5:99899853-99899854	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs6886297	chr5:99899887-99899888	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs374439727	chr5:99899920-99899921	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs184390331	chr5:99899934-99899935	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs532325222	chr5:99899947-99899948	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs539160336	chr5:99899963-99899964	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs550880849	chr5:99899968-99899969	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs369231186	chr5:99899976-99899977	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs372276291	chr5:99900005-99900006	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
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
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	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
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	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
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:151 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:99872400-99931400	Weak transcription	Aorta	Aorta
2	chr5:99872600-99922800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr5:99872800-99902000	Weak transcription	HSMM	muscle
4	chr5:99872800-99916200	Weak transcription	Ovary	ovary
5	chr5:99873400-99916200	Weak transcription	Fetal Stomach	stomach
6	chr5:99873400-99930600	Weak transcription	NH-A	brain
7	chr5:99878400-99930600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr5:99882200-99899200	Weak transcription	Left Ventricle	heart
9	chr5:99884000-99910400	Weak transcription	HUVEC	blood vessel
10	chr5:99886800-99899400	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr5:99886800-99930200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr5:99887200-99912000	Weak transcription	Psoas Muscle	Psoas
13	chr5:99887200-99916200	Weak transcription	Lung	lung
14	chr5:99887200-99924600	Weak transcription	Fetal Thymus	thymus
15	chr5:99887600-99899600	Weak transcription	Fetal Muscle Leg	muscle
16	chr5:99887600-99907200	Weak transcription	Pancreas	Pancrea
17	chr5:99893800-99910400	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr5:99894400-99907400	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr5:99894800-99899400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr5:99895000-99899000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr5:99895400-99902000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr5:99895400-99919800	Weak transcription	HSMMtube	muscle
23	chr5:99895600-99903000	Weak transcription	Placenta	Placenta
24	chr5:99895800-99911600	Weak transcription	NHDF-Ad	bronchial
25	chr5:99895800-99921000	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr5:99895800-99931000	Weak transcription	Fetal Intestine Large	intestine
27	chr5:99896200-99916200	Weak transcription	Fetal Muscle Trunk	muscle
28	chr5:99896200-99927600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr5:99896400-99899000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr5:99896400-99899000	Weak transcription	Liver	Liver
31	chr5:99896400-99903600	Weak transcription	Fetal Kidney	kidney
32	chr5:99896600-99933800	Weak transcription	Primary hematopoietic stem cells	blood
33	chr5:99896800-99902400	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr5:99896800-99903000	Weak transcription	Osteobl	bone
35	chr5:99896800-99931000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr5:99897000-99902200	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr5:99897000-99902400	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr5:99897000-99928800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr5:99897200-99910200	Weak transcription	Colon Smooth Muscle	Colon
40	chr5:99897200-99923800	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr5:99897400-99902600	Weak transcription	Brain Substantia Nigra	brain
42	chr5:99897600-99899800	Weak transcription	Brain Cingulate Gyrus	brain
43	chr5:99897600-99900200	Strong transcription	Primary B cells from cord blood	blood
44	chr5:99897600-99900200	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr5:99897800-99899600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr5:99897800-99899800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr5:99897800-99899800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr5:99897800-99899800	Strong transcription	Adipose Nuclei	Adipose
49	chr5:99897800-99899800	Strong transcription	Fetal Lung	lung
50	chr5:99897800-99899800	Strong transcription	GM12878-XiMat	blood

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