Variant report

Variant	nsv912945
Chromosome Location	chr20:52746724-52772741
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:219)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

No data

(count:219 , 50 per page) page: 1 2 3 4 5

No.	Distal block	Cell Line	Cell type
1	chr12:82272483..82273222-chr20:52765395..52766260,2	MCF-7	breast:
2	chr20:52765302..52766219-chr20:52784081..52784986,2	MCF-7	breast:
3	chr20:52748698..52751291-chr5:43063719..43066495,2	MCF-7	breast:
4	chr20:52599220..52600094-chr20:52765356..52766214,8	MCF-7	breast:
5	chr20:52756212..52758727-chr20:55838230..55840160,2	MCF-7	breast:
6	chr17:56755806..56758420-chr20:52746879..52748787,2	MCF-7	breast:
7	chr12:53344317..53347285-chr20:52748753..52751041,2	MCF-7	breast:
8	chr17:56735238..56739776-chr20:52762796..52768683,6	MCF-7	breast:
9	chr17:57922783..57925093-chr20:52747616..52750440,2	MCF-7	breast:
10	chr20:52765258..52766191-chr20:52811713..52812860,8	MCF-7	breast:
11	chr20:52753036..52755675-chr20:55846284..55848438,3	MCF-7	breast:
12	chr17:59940959..59943336-chr20:52762258..52765062,2	MCF-7	breast:
13	chr17:58164161..58167016-chr20:52755740..52758316,2	MCF-7	breast:
14	chr20:52765675..52766267-chr3:61793285..61793911,2	MCF-7	breast:
15	chr20:52740252..52740799-chr20:52762761..52763740,2	MCF-7	breast:
16	chr17:7648947..7649662-chr20:52749027..52749606,2	MCF-7	breast:
17	chr1:184044285..184045279-chr20:52750627..52751499,2	MCF-7	breast:
18	chr20:52765262..52766080-chr20:52815919..52816758,2	MCF-7	breast:
19	chr20:52765396..52765954-chr20:52813444..52814055,2	MCF-7	breast:
20	chr17:57915670..57917563-chr20:52761604..52764327,3	MCF-7	breast:
21	chr20:52743021..52744541-chr20:52765021..52766396,99	MCF-7	breast:
22	chr20:52739738..52741068-chr20:52764992..52766400,210	MCF-7	breast:
23	chr20:52715778..52716806-chr20:52765023..52766312,8	MCF-7	breast:
24	chr17:58422367..58422932-chr20:52765098..52765896,2	MCF-7	breast:
25	chr20:52765499..52766221-chr3:64598795..64599626,3	MCF-7	breast:
26	chr17:56735202..56737939-chr20:52748696..52751920,4	MCF-7	breast:
27	chr20:52755942..52756876-chr20:52811682..52812184,2	MCF-7	breast:
28	chr17:56707303..56709344-chr20:52756983..52758508,2	MCF-7	breast:
29	chr17:59800131..59801317-chr20:52765395..52766291,6	MCF-7	breast:
30	chr20:52765381..52766270-chr20:52885301..52885922,2	MCF-7	breast:
31	chr20:49401950..49404610-chr20:52745277..52747052,2	MCF-7	breast:
32	chr17:56734965..56736962-chr20:52770464..52773250,2	MCF-7	breast:
33	chr20:52764733..52766360-chr20:52810946..52812641,239	MCF-7	breast:
34	chr20:52747406..52750042-chr20:52765504..52767989,2	K562	blood:
35	chr17:57927648..57930495-chr20:52747447..52749860,2	MCF-7	breast:
36	chr20:52742787..52744481-chr20:52754993..52756803,2	K562	blood:
37	chr17:56735130..56736832-chr20:52745564..52747890,3	MCF-7	breast:
38	chr17:57036101..57038729-chr20:52756859..52759059,2	MCF-7	breast:
39	chr20:52747406..52750042-chr20:52765504..52767989,2	K562	blood:
40	chr20:52765378..52765954-chr20:52813444..52814379,4	MCF-7	breast:
41	chr17:58484737..58486846-chr20:52770225..52772755,2	MCF-7	breast:
42	chr17:57913131..57926939-chr20:52735776..52751538,42	MCF-7	breast:
43	chr20:47481025..47481946-chr20:52765386..52766208,6	MCF-7	breast:
44	chr20:52769068..52771825-chr20:54966838..54969241,2	MCF-7	breast:
45	chr20:52766754..52768697-chr8:144820849..144823437,2	MCF-7	breast:
46	chr20:52765013..52767443-chr20:55839272..55842153,3	MCF-7	breast:
47	chr20:52211908..52215151-chr20:52766884..52771883,4	MCF-7	breast:
48	chr20:52765685..52766234-chr3:64042063..64042860,2	MCF-7	breast:
49	chr20:52768371..52769040-chr20:52811641..52812154,2	MCF-7	breast:
50	chr12:114833601..114834101-chr20:52765377..52766183,2	MCF-7	breast:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	CYP24A1	hsa-miR-125b-5p	chr20:52771264-52771285
2	CYP24A1	hsa-miR-26b-5p	chr20:52770528-52770547

Variant related genes	Relation type
ENSG00000203499	chromatin interactions
ENSG00000062716	chromatin interactions
ENSG00000172239	chromatin interactions
ENSG00000266826	chromatin interactions
ENSG00000137494	chromatin interactions
ENSG00000240006	chromatin interactions
ENSG00000108443	chromatin interactions
ENSG00000258486	chromatin interactions
ENSG00000196562	chromatin interactions
ENSG00000111057	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000268745	chromatin interactions
ENSG00000101138	chromatin interactions
ENSG00000171940	chromatin interactions
ENSG00000237423	chromatin interactions
ENSG00000135480	chromatin interactions
ENSG00000198518	chromatin interactions
ENSG00000267280	chromatin interactions
ENSG00000140455	chromatin interactions
ENSG00000173218	chromatin interactions
ENSG00000200997	chromatin interactions
ENSG00000187013	chromatin interactions
ENSG00000202077	chromatin interactions
ENSG00000101144	chromatin interactions
ENSG00000091136	chromatin interactions
ENSG00000179743	chromatin interactions
ENSG00000225410	chromatin interactions
ENSG00000124151	chromatin interactions
ENSG00000121068	chromatin interactions
ENSG00000172262	chromatin interactions
ENSG00000201524	chromatin interactions
ENSG00000087586	chromatin interactions
ENSG00000124243	chromatin interactions
ENSG00000267882	chromatin interactions
ENSG00000265039	chromatin interactions
ENSG00000226308	chromatin interactions
ENSG00000157240	chromatin interactions
ENSG00000101040	chromatin interactions
ENSG00000124171	chromatin interactions
ENSG00000247137	chromatin interactions
ENSG00000207947	chromatin interactions
ENSG00000199004	chromatin interactions
ENSG00000235415	chromatin interactions
ENSG00000261040	chromatin interactions

Extended variants
information (count: 1000 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:1000 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6127107	chr20:52746724-52746725	Weak transcription	Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs6022976	chr20:52746732-52746733	Weak transcription	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
3	rs539727521	chr20:52746748-52746749	Weak transcription	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
4	rs386815199	chr20:52746766-52746767	Weak transcription	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
5	rs6127108	chr20:52746768-52746769	Weak transcription	Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs535802296	chr20:52746823-52746824	Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
7	rs183242672	chr20:52746829-52746830	Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
8	rs6022977	chr20:52746839-52746840	Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
9	rs6068800	chr20:52746850-52746851	Weak transcription	Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs540449812	chr20:52746911-52746912	Weak transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
11	rs149460352	chr20:52746924-52746925	Weak transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
12	rs577240706	chr20:52746926-52746927	Weak transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
13	rs6091818	chr20:52746942-52746943	Weak transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
14	rs186489651	chr20:52746952-52746953	Weak transcription	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
15	rs562547951	chr20:52746999-52747000	Weak transcription	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
16	rs191335072	chr20:52747018-52747019	Weak transcription Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
17	rs548119362	chr20:52747044-52747045	Weak transcription Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
18	rs6022978	chr20:52747050-52747051	Weak transcription Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
19	rs115263589	chr20:52747057-52747058	Weak transcription Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
20	rs549290263	chr20:52747116-52747117	Weak transcription Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
21	rs527349385	chr20:52747119-52747120	Weak transcription Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
22	rs575306740	chr20:52747123-52747124	Weak transcription Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
23	rs570689138	chr20:52747134-52747135	Weak transcription Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
24	rs540172927	chr20:52747188-52747189	Weak transcription Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
25	rs183150889	chr20:52747189-52747190	Weak transcription Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
26	rs116676448	chr20:52747210-52747211	Weak transcription Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
27	rs535503849	chr20:52747213-52747214	Weak transcription Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
28	rs569406239	chr20:52747278-52747279	Weak transcription Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
29	rs566214118	chr20:52747279-52747280	Weak transcription Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
30	rs375420287	chr20:52747282-52747283	Weak transcription Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
31	rs535101820	chr20:52747306-52747307	Weak transcription Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
32	rs187884684	chr20:52747316-52747317	Weak transcription Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
33	rs192975097	chr20:52747332-52747333	Weak transcription Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
34	rs143947154	chr20:52747333-52747334	Weak transcription Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
35	rs369484126	chr20:52747340-52747341	Weak transcription Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
36	rs556184647	chr20:52747347-52747348	Weak transcription Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
37	rs576257080	chr20:52747351-52747352	Weak transcription Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
38	rs148232586	chr20:52747354-52747355	Weak transcription Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
39	rs561331326	chr20:52747382-52747383	Weak transcription Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
40	rs6068801	chr20:52747410-52747411	Weak transcription Enhancers	Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs6068802	chr20:52747436-52747437	Weak transcription Enhancers	Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs141935622	chr20:52747454-52747455	Weak transcription Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
43	rs113118326	chr20:52747506-52747507	Weak transcription Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
44	rs6068803	chr20:52747523-52747524	Weak transcription Enhancers	Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs570269468	chr20:52747534-52747535	Weak transcription Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
46	rs529576445	chr20:52747562-52747563	Weak transcription Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
47	rs6068804	chr20:52747566-52747567	Weak transcription Enhancers	Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs369751766	chr20:52747576-52747577	Weak transcription Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
49	rs535168244	chr20:52747587-52747588	Weak transcription Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
50	rs558295147	chr20:52747629-52747630	Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Gastric cancer	17908304	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Urothelial carcinoma	21177765	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	21693616	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
colon cancer	17210682	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	22028636	CNVD
Breast cancer	21264507	CNVD
Thyroid cancer	19087340	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Colorectal cancer	19359472	CNVD
Gastric cancer	17167181	CNVD
Myeloproliferative neoplasm	19047681	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Breast cancer	16608533	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Oral cancer	21386901	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	20729466	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Myelodysplastic syndrome	21251322	CNVD
Ductal carcinoma	22052326	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Gastric cancer	20585902	CNVD
Ductal carcinoma	18381933	CNVD
Cancer	21129771	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	20864512	CNVD
Ovarian cancer	22174824	CNVD
Lung cancer	16740712	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	16620391	CNVD
Okamoto syndrome	17623483	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Bladder cancer	21909424	CNVD
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Cervical cancer	16585170	CNVD
Ovarian cancer	20844748	CNVD
Hirschsprung''s Disease	21712996	CNVD
Breast cancer	21364760	CNVD
Breast cancer	20459607	CNVD
Gastric cancer	18160780	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Medulloblastoma	16783165	CNVD

Chromatin state (count:304 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52740200-52748600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr20:52740600-52748200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr20:52740600-52748200	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr20:52741200-52748200	Weak transcription	Placenta	Placenta
5	chr20:52742000-52748200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr20:52743800-52748400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr20:52744600-52749800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr20:52745000-52748400	Weak transcription	NH-A	brain
9	chr20:52745400-52748000	Weak transcription	Hela-S3	cervix
10	chr20:52745400-52748000	Weak transcription	HepG2	liver
11	chr20:52745400-52748200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr20:52745400-52748200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr20:52745400-52748200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr20:52745400-52748200	Weak transcription	HMEC	breast
15	chr20:52745400-52748200	Weak transcription	NHEK	skin
16	chr20:52747000-52747600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr20:52747600-52748000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr20:52748000-52748200	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr20:52748000-52748400	Enhancers	Hela-S3	cervix
20	chr20:52748000-52748400	Enhancers	HepG2	liver
21	chr20:52748000-52749800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr20:52748000-52750400	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr20:52748200-52748600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr20:52748200-52748600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr20:52748200-52748600	Enhancers	Esophagus	oesophagus
26	chr20:52748200-52748800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr20:52748200-52748800	Enhancers	Primary B cells from cord blood	blood
28	chr20:52748200-52748800	Enhancers	Fetal Muscle Trunk	muscle
29	chr20:52748200-52748800	Enhancers	A549	lung
30	chr20:52748200-52749000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr20:52748200-52749000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr20:52748200-52749000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr20:52748200-52749000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr20:52748200-52749000	Enhancers	Osteobl	bone
35	chr20:52748200-52749600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr20:52748200-52749600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr20:52748200-52749600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr20:52748200-52749600	Enhancers	Muscle Satellite Cultured Cells	--
39	chr20:52748200-52749600	Enhancers	NHDF-Ad	bronchial
40	chr20:52748200-52749600	Enhancers	NHEK	skin
41	chr20:52748200-52750000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
42	chr20:52748200-52750200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr20:52748200-52750200	Enhancers	Placenta	Placenta
44	chr20:52748200-52750400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr20:52748200-52751800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr20:52748200-52751800	Enhancers	HMEC	breast
47	chr20:52748400-52748600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr20:52748400-52748600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr20:52748400-52748800	Enhancers	Small Intestine	intestine
50	chr20:52748400-52749000	Enhancers	Breast Myoepithelial Primary Cells	Breast

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