Variant report

Variant	nsv881666
Chromosome Location	chr5:36498183-36537369
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:36415574..36416124-chr5:36507070..36507980,2	MCF-7	breast:
2	chr5:36527419..36529064-chr5:36530943..36532973,2	MCF-7	breast:
3	chr5:36415574..36416438-chr5:36507363..36507957,2	MCF-7	breast:
4	chr5:36498212..36500819-chr5:36503623..36505516,3	K562	blood:
5	chr5:36499725..36501562-chr5:36503562..36506280,2	MCF-7	breast:
6	chr5:36414583..36415587-chr5:36506983..36508090,7	K562	blood:
7	chr5:36412717..36413437-chr5:36507212..36508126,2	K562	blood:
8	chr5:36499725..36501562-chr5:36503562..36506280,2	MCF-7	breast:
9	chr5:36527419..36529064-chr5:36530943..36532973,2	MCF-7	breast:
10	chr5:36498212..36500819-chr5:36503623..36505516,3	K562	blood:
11	chr5:36500289..36503797-chr5:36504246..36507630,3	K562	blood:
12	chr5:36531471..36533045-chr5:36535708..36538491,2	MCF-7	breast:
13	chr5:36414161..36415558-chr5:36507119..36508035,4	MCF-7	breast:
14	chr5:36265104..36265888-chr5:36507183..36507807,2	K562	blood:
15	chr5:36500289..36503797-chr5:36504246..36507630,3	K562	blood:
16	chr5:36079366..36080125-chr5:36507043..36508002,2	K562	blood:
17	chr5:36507187..36508089-chr5:36692700..36694128,7	MCF-7	breast:
18	chr5:36531471..36533045-chr5:36535708..36538491,2	MCF-7	breast:

No data

Extended variants
information (count: 1083 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:1083 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2956574	chr5:36498183-36498184	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs114766552	chr5:36498204-36498205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs191321019	chr5:36498244-36498245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs372745099	chr5:36498254-36498255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs560195924	chr5:36498298-36498299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs573831432	chr5:36498337-36498338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs542476648	chr5:36498365-36498366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs562665829	chr5:36498374-36498375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs531336298	chr5:36498375-36498376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs113027417	chr5:36498388-36498389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs4541683	chr5:36498437-36498438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs527302253	chr5:36498440-36498441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs547324888	chr5:36498446-36498447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs73089665	chr5:36498476-36498477	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs73089667	chr5:36498478-36498479	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs149111291	chr5:36498480-36498481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs143207754	chr5:36498489-36498490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs538389393	chr5:36498551-36498552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs114105817	chr5:36498591-36498592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs548020706	chr5:36498604-36498605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs151191562	chr5:36498617-36498618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs13164521	chr5:36498643-36498644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs369505239	chr5:36498683-36498684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs183858350	chr5:36498721-36498722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs554187601	chr5:36498768-36498769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs140327567	chr5:36498792-36498793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs145480459	chr5:36498810-36498811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs573866273	chr5:36498901-36498902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs542889439	chr5:36498965-36498966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs79787330	chr5:36498968-36498969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs137920000	chr5:36498993-36498994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs575825516	chr5:36498996-36498997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs569253800	chr5:36499006-36499007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs370960855	chr5:36499029-36499030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs537836257	chr5:36499049-36499050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs187725579	chr5:36499063-36499064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs2967065	chr5:36499080-36499081	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs142467682	chr5:36499105-36499106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs192530328	chr5:36499128-36499129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs560924627	chr5:36499181-36499182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs376392609	chr5:36499196-36499197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs185846887	chr5:36499210-36499211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs144567593	chr5:36499211-36499212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs138414056	chr5:36499222-36499223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs566114942	chr5:36499233-36499234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs189919515	chr5:36499240-36499241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs149637595	chr5:36499241-36499242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs571789993	chr5:36499246-36499247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs534263034	chr5:36499326-36499327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs534003735	chr5:36499342-36499343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Myofibroblastic sarcoma	19369631	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	20864512	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
Medulloblastoma	21979893	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
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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
prenatal diagnosis	22389664	CNVD
Thoracic aortic aneurysm	21092924	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
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Non-small cell lung cancer	19010865	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Prostate cancer	18632612	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	19553991	CNVD
Lung cancer	19553991	CNVD
Melanoma	19553991	CNVD
Ovarian cancer	19553991	CNVD
Prostate cancer	19553991	CNVD
Non-small cell lung cancer	17156491	CNVD
Breast cancer	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Lung cancer	19153074	CNVD
Breast cancer	21364760	CNVD
Cornelia de Lange syndrome	21085971	CNVD
Autism	21701786	CNVD
Cervical cancer	16585170	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	21147910	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:275 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36491200-36499800	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr5:36496000-36502200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr5:36496000-36502800	Weak transcription	Stomach Smooth Muscle	stomach
4	chr5:36496200-36501800	Weak transcription	Hela-S3	cervix
5	chr5:36497600-36502400	Weak transcription	Brain Anterior Caudate	brain
6	chr5:36497800-36499800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr5:36499200-36499600	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr5:36499200-36499800	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr5:36499800-36502200	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr5:36499800-36503600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr5:36501600-36502400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr5:36501800-36502200	Enhancers	Hela-S3	cervix
13	chr5:36501800-36502400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr5:36501800-36504000	Enhancers	HMEC	breast
15	chr5:36501800-36504200	Enhancers	HSMMtube	muscle
16	chr5:36501800-36504600	Enhancers	HSMM	muscle
17	chr5:36501800-36506000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr5:36502000-36502600	Enhancers	Muscle Satellite Cultured Cells	--
19	chr5:36502000-36503000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr5:36502000-36503800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr5:36502000-36504000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr5:36502000-36504000	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr5:36502000-36504000	Enhancers	NH-A	brain
24	chr5:36502000-36504200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr5:36502000-36504400	Enhancers	NHDF-Ad	bronchial
26	chr5:36502000-36504400	Enhancers	Osteobl	bone
27	chr5:36502200-36502400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr5:36502200-36502400	Enhancers	Psoas Muscle	Psoas
29	chr5:36502200-36503200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr5:36502200-36503200	Enhancers	Colon Smooth Muscle	Colon
31	chr5:36502200-36503400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr5:36502200-36503400	Flanking Active TSS	Hela-S3	cervix
33	chr5:36502200-36503400	Enhancers	NHLF	lung
34	chr5:36502200-36504600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr5:36502200-36504600	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr5:36502400-36502800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr5:36502400-36503000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr5:36502400-36503000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr5:36502400-36503000	Enhancers	Brain Anterior Caudate	brain
40	chr5:36502400-36503200	Enhancers	NHEK	skin
41	chr5:36502400-36503800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr5:36502400-36504200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr5:36502600-36503000	Enhancers	Stomach Mucosa	stomach
44	chr5:36502600-36503400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
45	chr5:36502600-36504600	Enhancers	Adipose Nuclei	Adipose
46	chr5:36502800-36503000	Enhancers	Stomach Smooth Muscle	stomach
47	chr5:36502800-36503200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr5:36502800-36503200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr5:36502800-36503200	Enhancers	Fetal Muscle Leg	muscle
50	chr5:36502800-36503200	Enhancers	Skeletal Muscle Male	skeletal muscle

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