Variant report

Variant	nsv470915
Chromosome Location	chr10:5591025-5602880
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:56)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:56 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr10:5531559..5534343-chr10:5598627..5601561,2	K562	blood:
2	chr10:5594566..5598758-chr10:5599072..5603541,5	K562	blood:
3	chr10:5527035..5528745-chr10:5588674..5591554,2	K562	blood:
4	chr10:5593662..5596441-chr10:5715811..5718225,2	MCF-7	breast:
5	chr10:5593662..5595801-chr10:5669870..5671896,3	MCF-7	breast:
6	chr10:5597404..5599365-chr10:5605126..5607018,2	K562	blood:
7	chr10:5588926..5596967-chr10:5614767..5621599,13	MCF-7	breast:
8	chr10:5596617..5598124-chr10:5708256..5710855,2	MCF-7	breast:
9	chr10:5590969..5593951-chr10:5606368..5608078,2	K562	blood:
10	chr10:5491451..5493035-chr10:5593759..5595362,2	K562	blood:
11	chr10:5581645..5583393-chr10:5595505..5597370,2	K562	blood:
12	chr10:5508799..5510364-chr10:5598163..5599717,2	K562	blood:
13	chr10:5520840..5523317-chr10:5589308..5592399,3	K562	blood:
14	chr10:5593038..5596682-chr10:5605799..5608006,4	MCF-7	breast:
15	chr10:5580109..5581869-chr10:5591078..5593322,2	K562	blood:
16	chr10:5585544..5594047-chr10:5703661..5709987,18	MCF-7	breast:
17	chr10:5590163..5594025-chr10:5603486..5606859,3	K562	blood:
18	chr10:5544425..5547026-chr10:5598488..5600263,2	MCF-7	breast:
19	chr10:5591215..5593719-chr10:5599624..5602404,2	K562	blood:
20	chr10:5534656..5535568-chr10:5592997..5593890,2	MCF-7	breast:
21	chr10:5594983..5597164-chr10:5655086..5657673,2	MCF-7	breast:
22	chr10:5589894..5591628-chr10:5645906..5647922,4	MCF-7	breast:
23	chr1:37945430..37947743-chr10:5589159..5591132,2	MCF-7	breast:
24	chr10:5580025..5582244-chr10:5589635..5591706,2	K562	blood:
25	chr10:5509879..5512674-chr10:5590526..5592365,2	K562	blood:
26	chr10:5496908..5513504-chr10:5583876..5597686,82	MCF-7	breast:
27	chr10:5598840..5600592-chr10:5600900..5603506,2	K562	blood:
28	chr10:5593411..5593958-chr10:5664829..5665548,2	MCF-7	breast:
29	chr10:5584975..5598212-chr10:5621607..5634806,86	MCF-7	breast:
30	chr10:5592831..5595725-chr10:5854017..5855784,2	MCF-7	breast:
31	chr10:5602399..5604933-chr10:5614544..5616232,2	K562	blood:
32	chr10:5594566..5598758-chr10:5599072..5603541,5	K562	blood:
33	chr10:5599218..5601467-chr10:5626638..5630611,4	MCF-7	breast:
34	chr10:5519492..5522236-chr10:5601737..5603732,2	K562	blood:
35	chr10:5585149..5591741-chr10:5652577..5661008,17	MCF-7	breast:
36	chr10:5595998..5596581-chr10:5664936..5665458,2	MCF-7	breast:
37	chr10:5591215..5593719-chr10:5599624..5602404,2	K562	blood:
38	chr10:5495552..5497804-chr10:5602669..5605411,3	MCF-7	breast:
39	chr10:5596817..5599618-chr10:5614255..5615929,2	K562	blood:
40	chr10:5583637..5601494-chr10:5650599..5672411,88	MCF-7	breast:
41	chr10:5590216..5591949-chr10:5612041..5614492,2	MCF-7	breast:
42	chr10:5520027..5522501-chr10:5590798..5592556,2	K562	blood:
43	chr10:5579554..5581874-chr10:5597912..5600159,2	K562	blood:
44	chr10:5485039..5496687-chr10:5584772..5598184,85	MCF-7	breast:
45	chr10:5591759..5594036-chr3:123396035..123398437,2	MCF-7	breast:
46	chr10:5592839..5594625-chr10:5635555..5637681,2	MCF-7	breast:
47	chr10:5598840..5600592-chr10:5600900..5603506,2	K562	blood:
48	chr10:5586583..5591953-chr10:5698330..5703488,13	MCF-7	breast:
49	chr10:5585944..5594625-chr10:5661457..5667151,17	MCF-7	breast:
50	chr10:5595300..5599425-chr10:5700368..5703903,3	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CALML5-3	chr10:5591591-5592344	XLOC_008708
2	lnc-CALML5-7	chr10:5596690-5597268	l_246_chr10:5596689-5598689_testes
3	lnc-CALML5-3	chr10:5592607-5592847	XLOC_008708
4	lnc-CALML5-7	chr10:5598499-5598689	l_246_chr10:5596689-5598689_testes

No data

Variant related genes	Relation type
ENSG00000163874	chromatin interactions
ENSG00000228685	chromatin interactions
ENSG00000057608	chromatin interactions
ENSG00000270427	chromatin interactions
ENSG00000108021	chromatin interactions
ENSG00000173848	chromatin interactions
ENSG00000242147	chromatin interactions
ENSG00000231483	chromatin interactions
ENSG00000196372	chromatin interactions
ENSG00000228951	chromatin interactions

Extended variants
information (count: 573 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:573 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4881475	chr10:5591025-5591026	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs576319657	chr10:5591057-5591058	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
3	rs114671807	chr10:5591058-5591059	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
4	rs181061202	chr10:5591060-5591061	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
5	rs137948708	chr10:5591077-5591078	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
6	rs4881476	chr10:5591078-5591079	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs75911484	chr10:5591079-5591080	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
8	rs4881477	chr10:5591084-5591085	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs4881478	chr10:5591094-5591095	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs539164419	chr10:5591101-5591102	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
11	rs541537868	chr10:5591125-5591126	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
12	rs376403731	chr10:5591133-5591134	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
13	rs577650018	chr10:5591228-5591229	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
14	rs563013245	chr10:5591242-5591243	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
15	rs186000390	chr10:5591263-5591264	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
16	rs35652501	chr10:5591320-5591321	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
17	rs71388444	chr10:5591322-5591323	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
18	rs552529292	chr10:5591393-5591394	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
19	rs370529840	chr10:5591417-5591418	Enhancers Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
20	rs373640604	chr10:5591445-5591446	Enhancers Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
21	rs571014046	chr10:5591472-5591473	Enhancers Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs377766066	chr10:5591503-5591504	Enhancers Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs7085134	chr10:5591553-5591554	Enhancers Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
24	rs189676133	chr10:5591555-5591556	Enhancers Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs565151695	chr10:5591598-5591599	Enhancers Weak transcription	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
26	rs535815106	chr10:5591754-5591755	Enhancers Weak transcription	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
27	rs73606710	chr10:5591788-5591789	Enhancers Weak transcription	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
28	rs539801198	chr10:5591793-5591794	Enhancers Weak transcription	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
29	rs569281661	chr10:5591797-5591798	Enhancers Weak transcription	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
30	rs539908052	chr10:5591799-5591800	Enhancers Weak transcription	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
31	rs558514131	chr10:5591803-5591804	Enhancers Weak transcription	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
32	rs576966828	chr10:5591830-5591831	Enhancers Weak transcription	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
33	rs115888890	chr10:5591879-5591880	Enhancers Weak transcription	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
34	rs182762502	chr10:5591891-5591892	Enhancers Weak transcription	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
35	rs115891963	chr10:5591911-5591912	Enhancers Weak transcription	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
36	rs566120069	chr10:5591917-5591918	Enhancers Weak transcription	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
37	rs9423650	chr10:5591935-5591936	Enhancers Weak transcription	Chromatin interactive region lncRNA	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs150505209	chr10:5592002-5592003	Enhancers Weak transcription	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
39	rs9423442	chr10:5592038-5592039	Enhancers Weak transcription	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
40	rs138411285	chr10:5592055-5592056	Enhancers Weak transcription	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
41	rs185570925	chr10:5592066-5592067	Enhancers Weak transcription	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
42	rs528643959	chr10:5592067-5592068	Enhancers Weak transcription	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
43	rs547333569	chr10:5592080-5592081	Enhancers Weak transcription	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
44	rs9423651	chr10:5592087-5592088	Enhancers Weak transcription	Chromatin interactive region lncRNA	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs529591260	chr10:5592128-5592129	Enhancers Weak transcription	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
46	rs559754038	chr10:5592161-5592162	Enhancers Weak transcription	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
47	rs551029791	chr10:5592163-5592164	Enhancers Weak transcription	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
48	rs149323182	chr10:5592166-5592167	Enhancers Weak transcription	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
49	rs539596448	chr10:5592183-5592184	Enhancers Weak transcription	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
50	rs190772751	chr10:5592204-5592205	Enhancers Weak transcription	Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	CNVD
Cancer	21129771	CNVD
Colorectal cancer	20709793	CNVD
Wilms tumour	19047088	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Barakat syndrome	22470819	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	21720365	CNVD
Autism	18414403	CNVD
Malignant melanoma	18718029	CNVD
Breast cancer	22032731	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	17363583	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Renal cell carcinoma	18765545	CNVD
lymphocytic leukemia	21291569	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Ovarian cancer	22355333	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:470 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5586000-5591200	Enhancers	Liver	Liver
2	chr10:5586200-5591400	Enhancers	Pancreas	Pancrea
3	chr10:5586200-5591400	Enhancers	Sigmoid Colon	Sigmoid Colon
4	chr10:5586200-5596600	Enhancers	Placenta	Placenta
5	chr10:5586200-5597000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr10:5586400-5591800	Enhancers	NHLF	lung
7	chr10:5586400-5592600	Enhancers	Fetal Lung	lung
8	chr10:5586400-5597800	Enhancers	Esophagus	oesophagus
9	chr10:5587000-5591200	Enhancers	Fetal Muscle Trunk	muscle
10	chr10:5587000-5591800	Enhancers	Lung	lung
11	chr10:5587000-5592000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr10:5587000-5597600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr10:5587200-5591200	Flanking Active TSS	A549	lung
14	chr10:5587200-5591400	Flanking Active TSS	Hela-S3	cervix
15	chr10:5587200-5591800	Enhancers	NHDF-Ad	bronchial
16	chr10:5587200-5594200	Enhancers	Fetal Muscle Leg	muscle
17	chr10:5587400-5591400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr10:5587400-5593200	Weak transcription	Thymus	Thymus
19	chr10:5587600-5596800	Enhancers	Fetal Thymus	thymus
20	chr10:5587800-5594400	Enhancers	Placenta Amnion	Placenta Amnion
21	chr10:5588400-5608200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr10:5588600-5592000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr10:5588800-5591400	Flanking Active TSS	HepG2	liver
24	chr10:5589200-5591200	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr10:5589400-5597000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr10:5589600-5591400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr10:5589600-5591800	Enhancers	Primary T cells fromperipheralblood	blood
28	chr10:5589600-5591800	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr10:5589600-5593600	Enhancers	NHEK	skin
30	chr10:5589800-5593800	Enhancers	Primary T cells from cord blood	blood
31	chr10:5590000-5591200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr10:5590000-5591200	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr10:5590000-5591400	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr10:5590000-5591400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr10:5590000-5591600	Enhancers	Fetal Heart	heart
36	chr10:5590200-5591200	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr10:5590200-5591200	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr10:5590200-5591200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr10:5590200-5591200	Enhancers	Right Ventricle	heart
40	chr10:5590200-5591400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr10:5590200-5591400	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr10:5590200-5591400	Enhancers	Right Atrium	heart
43	chr10:5590200-5591400	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr10:5590200-5591400	Enhancers	HSMMtube	muscle
45	chr10:5590200-5591400	Flanking Active TSS	K562	blood
46	chr10:5590200-5591600	Enhancers	Primary T killer memory cells from peripheral blood	blood
47	chr10:5590200-5591800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr10:5590200-5591800	Enhancers	Muscle Satellite Cultured Cells	--
49	chr10:5590200-5591800	Enhancers	HUVEC	blood vessel
50	chr10:5590200-5591800	Enhancers	Osteobl	bone

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