Variant report

Variant	nsv596889
Chromosome Location	chr5:1753306-1775600
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:40)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:40 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:1763417..1764044-chr5:2038313..2038983,3	MCF-7	breast:
2	chr5:1771533..1774421-chr5:1800123..1801967,2	K562	blood:
3	chr5:1750900..1753381-chr5:1759749..1762364,2	MCF-7	breast:
4	chr5:1763854..1764458-chr5:2017408..2018220,3	K562	blood:
5	chr5:1768482..1770789-chr5:1865352..1867896,2	MCF-7	breast:
6	chr5:1769275..1771378-chr5:1773959..1777046,3	MCF-7	breast:
7	chr5:1763462..1764367-chr5:2038422..2039408,4	K562	blood:
8	chr5:1737624..1738286-chr5:1763817..1764647,2	MCF-7	breast:
9	chr5:1737757..1738596-chr5:1763455..1764023,2	K562	blood:
10	chr5:1767882..1769417-chr5:1769620..1771707,2	MCF-7	breast:
11	chr5:1751341..1753384-chr5:1755237..1757665,3	K562	blood:
12	chr5:1715223..1717210-chr5:1760480..1762922,2	K562	blood:
13	chr2:31059867..31060387-chr5:1772158..1772678,2	MCF-7	breast:
14	chr5:1774144..1776349-chr5:1777673..1779525,2	K562	blood:
15	chr5:1767882..1769417-chr5:1769620..1771707,2	MCF-7	breast:
16	chr5:1729060..1731790-chr5:1765001..1766955,2	K562	blood:
17	chr5:1756558..1758711-chr5:1800721..1802283,2	K562	blood:
18	chr5:1750900..1753381-chr5:1759749..1762364,2	MCF-7	breast:
19	chr5:1751341..1753384-chr5:1755237..1757665,3	K562	blood:
20	chr5:1769932..1772068-chr5:1795879..1799269,3	MCF-7	breast:
21	chr5:1767863..1770481-chr5:1799119..1801019,2	K562	blood:
22	chr5:1762386..1764429-chr5:1795462..1797247,2	K562	blood:
23	chr5:1749109..1751475-chr5:1763505..1766051,2	K562	blood:
24	chr5:1769289..1773807-chr5:1880777..1884094,4	MCF-7	breast:
25	chr5:1769275..1771378-chr5:1773959..1777046,3	MCF-7	breast:
26	chr5:1764171..1765746-chr5:1798427..1800932,2	K562	blood:
27	chr5:1772591..1773619-chr5:2017406..2018159,3	MCF-7	breast:
28	chr5:1771125..1773544-chr5:1782725..1784376,2	MCF-7	breast:
29	chr5:1667119..1667843-chr5:1772505..1773334,2	MCF-7	breast:
30	chr5:1773229..1775026-chr5:1777658..1779711,2	K562	blood:
31	chr5:1763381..1764606-chr5:2038413..2039439,5	MCF-7	breast:
32	chr5:1769767..1771848-chr5:1781925..1784908,2	K562	blood:
33	chr5:1772879..1774842-chr5:1799221..1802231,3	MCF-7	breast:
34	chr5:1667410..1667946-chr5:1763618..1764383,2	MCF-7	breast:
35	chr5:1772046..1773026-chr5:2038306..2039405,3	MCF-7	breast:
36	chr5:1771944..1774138-chr5:1779447..1781519,2	MCF-7	breast:
37	chr5:1765029..1767933-chr5:1776695..1778793,2	K562	blood:
38	chr5:1762646..1765345-chr5:1800105..1801867,3	MCF-7	breast:
39	chr5:1772113..1774072-chr5:2135789..2137462,2	MCF-7	breast:
40	chr5:1745002..1747614-chr5:1752763..1754778,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000249116	chromatin interactions
ENSG00000145494	chromatin interactions
ENSG00000171421	chromatin interactions
ENSG00000113430	chromatin interactions

Extended variants
information (count: 1076 )
Associated
traits (count: 112 )

Variant overlapped rSNPs/rCNVs (count:1076 , 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	rs2242411	chr5:1753306-1753307	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs369279640	chr5:1753316-1753317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539168685	chr5:1753319-1753320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs187675133	chr5:1753327-1753328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs191945380	chr5:1753335-1753336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs573903261	chr5:1753350-1753351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs376857620	chr5:1753355-1753356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs62336003	chr5:1753356-1753357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs183769574	chr5:1753365-1753366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs139453556	chr5:1753417-1753418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs374891551	chr5:1753424-1753425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs143137751	chr5:1753431-1753432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs188255432	chr5:1753440-1753441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs112803064	chr5:1753527-1753528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs199920273	chr5:1753528-1753529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs191828967	chr5:1753536-1753537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560594372	chr5:1753544-1753545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs577709348	chr5:1753568-1753569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs545062260	chr5:1753575-1753576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs138285063	chr5:1753581-1753582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs567608823	chr5:1753596-1753597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs545837328	chr5:1753614-1753615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs34747692	chr5:1753618-1753619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs16884284	chr5:1753621-1753622	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs568727012	chr5:1753637-1753638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs539277064	chr5:1753641-1753642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs560414836	chr5:1753743-1753744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs146670815	chr5:1753776-1753777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs527936625	chr5:1753810-1753811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs7723915	chr5:1753834-1753835	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs555074011	chr5:1753835-1753836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs11738901	chr5:1753854-1753855	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs561496822	chr5:1753863-1753864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs376990683	chr5:1753939-1753940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs556932961	chr5:1753953-1753954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs578243801	chr5:1753997-1753998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs545660812	chr5:1754011-1754012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs182522907	chr5:1754015-1754016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs572455101	chr5:1754056-1754057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs367816993	chr5:1754063-1754064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs186801296	chr5:1754123-1754124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs532259877	chr5:1754130-1754131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs550016823	chr5:1754166-1754167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs564803975	chr5:1754167-1754168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs531697471	chr5:1754233-1754234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs368542995	chr5:1754299-1754300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs372973716	chr5:1754307-1754308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs375829845	chr5:1754322-1754323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs10076498	chr5:1754337-1754338	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs10054276	chr5:1754373-1754374	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:112)

Disease	PMID	Source
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16608533	CNVD
Cervical cancer	16585170	CNVD
Glioblastoma multiforme	22286061	CNVD
Lung cancer	17925434	CNVD
Ovarian cancer	20844748	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	21829676	CNVD
Intracranial ependymoma	16609018	CNVD
Breast cancer	19181860	CNVD
prenatal diagnosis	20453657	CNVD
Developmental delay	19490664	CNVD
Human papillomavirus	17975027	CNVD
Acute monocytic leukemia	16498392	CNVD
Gastric cancer	16891809	CNVD
Intracranial aneurysm	16715129	CNVD
Emphysema	19352772	CNVD
Chordoma	18071362	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Lung cancer	21911935	CNVD
Cri-du chat syndrome	21549014	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	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	21509527	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Oral cancer	22144094	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Urothelial carcinoma	21177765	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
Pleomorphic liposarcoma	18784837	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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	22495311	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Glioma	20126413	CNVD

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:1752000-1755200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr5:1752000-1763400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:1752800-1757400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr5:1754600-1754800	Enhancers	Pancreas	Pancrea
5	chr5:1754800-1757400	Weak transcription	Pancreas	Pancrea
6	chr5:1755200-1756200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr5:1755600-1755800	Bivalent Enhancer	Fetal Lung	lung
8	chr5:1755600-1756000	Enhancers	H1 Cell Line	embryonic stem cell
9	chr5:1755600-1756000	Bivalent Enhancer	Fetal Muscle Leg	muscle
10	chr5:1755600-1756800	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr5:1755600-1757600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:1755800-1756200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
13	chr5:1755800-1756800	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr5:1755800-1757000	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr5:1756000-1756400	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr5:1756000-1756800	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr5:1756000-1763600	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr5:1756600-1756800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr5:1757400-1757600	Enhancers	Pancreas	Pancrea
20	chr5:1757400-1758000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr5:1758000-1761000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr5:1759600-1761400	Enhancers	Fetal Brain Male	brain
23	chr5:1759800-1760200	Bivalent Enhancer	Fetal Stomach	stomach
24	chr5:1760800-1761000	Bivalent Enhancer	Fetal Stomach	stomach
25	chr5:1760800-1761200	Enhancers	Fetal Brain Female	brain
26	chr5:1761000-1761800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr5:1761800-1762600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr5:1762400-1764400	Enhancers	Spleen	Spleen
29	chr5:1762600-1763000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr5:1763000-1763600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr5:1763400-1763800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr5:1763400-1764400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr5:1763600-1763800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr5:1763600-1763800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr5:1763600-1763800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr5:1763600-1764000	Enhancers	H1 Cell Line	embryonic stem cell
37	chr5:1763600-1764000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr5:1763600-1764000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr5:1763600-1764200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr5:1763600-1764400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr5:1763600-1764600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr5:1763600-1764600	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr5:1763600-1765000	Enhancers	Ovary	ovary
44	chr5:1763800-1765000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr5:1763800-1765600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr5:1763800-1772200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr5:1764000-1764200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr5:1764000-1764200	Bivalent Enhancer	Fetal Kidney	kidney
49	chr5:1764000-1764400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr5:1764000-1765200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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