Variant report

Variant	nsv834011
Chromosome Location	chr20:52858341-53086042
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:538)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:538 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Distal block	Cell Line	Cell type
1	chr17:59492385..59494445-chr20:52930380..52933375,2	MCF-7	breast:
2	chr20:53062423..53064765-chr20:53078870..53080771,2	MCF-7	breast:
3	chr20:52996776..52999241-chr8:143808318..143810131,2	MCF-7	breast:
4	chr20:52838614..52841427-chr20:52933611..52935858,2	MCF-7	breast:
5	chr20:52824429..52825065-chr20:52883808..52884537,2	MCF-7	breast:
6	chr20:53077777..53080190-chr20:53081758..53084535,2	K562	blood:
7	chr20:52691602..52694513-chr20:52873450..52876265,2	MCF-7	breast:
8	chr20:52840265..52842144-chr20:52866787..52869345,2	MCF-7	breast:
9	chr20:52988978..52989642-chr20:52998098..52998652,2	MCF-7	breast:
10	chr20:52912718..52914464-chr20:52993225..52995964,3	MCF-7	breast:
11	chr20:53000318..53001983-chr20:53203861..53206076,2	MCF-7	breast:
12	chr20:53059121..53062054-chr20:53071334..53072998,2	MCF-7	breast:
13	chr20:53057077..53059223-chr7:102716078..102718486,2	MCF-7	breast:
14	chr20:53061996..53063880-chr20:53065895..53070016,4	MCF-7	breast:
15	chr11:67465569..67466368-chr20:52910827..52911623,2	MCF-7	breast:
16	chr1:108742188..108744632-chr20:52963759..52965608,2	MCF-7	breast:
17	chr20:52887664..52890260-chr20:52906709..52909647,3	MCF-7	breast:
18	chr20:52838097..52840122-chr20:52937035..52938814,2	MCF-7	breast:
19	chr20:53039853..53042886-chr20:53054466..53057057,3	MCF-7	breast:
20	chr20:53026209..53029176-chr20:53030755..53032487,3	MCF-7	breast:
21	chr20:53039853..53042886-chr20:53054466..53057057,3	MCF-7	breast:
22	chr11:45927481..45930369-chr20:53023684..53026134,2	MCF-7	breast:
23	chr20:52835744..52843522-chr20:52881395..52889377,15	MCF-7	breast:
24	chr20:52769915..52770509-chr20:52876789..52877482,2	MCF-7	breast:
25	chr20:52917863..52920685-chr20:52931179..52933148,2	MCF-7	breast:
26	chr20:52882145..52883756-chr20:53001250..53003874,2	MCF-7	breast:
27	chr20:53016400..53017924-chr20:53017954..53020403,2	MCF-7	breast:
28	chr20:52816311..52816812-chr20:52935833..52936711,2	MCF-7	breast:
29	chr20:52863453..52865968-chr20:52924698..52926232,2	MCF-7	breast:
30	chr20:53083713..53086465-chr20:53104546..53106950,2	MCF-7	breast:
31	chr20:52932133..52934142-chr20:52951112..52954074,2	MCF-7	breast:
32	chr20:52881988..52885819-chr20:52932723..52935221,3	MCF-7	breast:
33	chr20:52979917..52982366-chr20:52988469..52990410,2	MCF-7	breast:
34	chr20:53052952..53054757-chr20:53071357..53073043,2	MCF-7	breast:
35	chr20:52835803..52837047-chr20:52936331..52937389,14	MCF-7	breast:
36	chr20:52883800..52885374-chr20:52939481..52942023,2	MCF-7	breast:
37	chr20:52887973..52889800-chr21:46823594..46826427,2	MCF-7	breast:
38	chr20:53051077..53051682-chr20:53081296..53082105,2	MCF-7	breast:
39	chr20:53020134..53020896-chr20:53031789..53032367,2	MCF-7	breast:
40	chr20:52881899..52886453-chr20:53260602..53265051,8	MCF-7	breast:
41	chr20:52834705..52836760-chr20:52964678..52966979,2	MCF-7	breast:
42	chr20:52909396..52910234-chr20:53072554..53073122,2	MCF-7	breast:
43	chr2:75348194..75350018-chr20:52980164..52981715,2	MCF-7	breast:
44	chr20:52885191..52887868-chr20:55839667..55841629,2	MCF-7	breast:
45	chr20:52916826..52918729-chr3:64490949..64493940,2	MCF-7	breast:
46	chr20:53055656..53058621-chr20:53075091..53077024,2	MCF-7	breast:
47	chr20:52911450..52915662-chr20:52921093..52925920,4	MCF-7	breast:
48	chr20:52902572..52903442-chr20:52914717..52915419,2	MCF-7	breast:
49	chr20:53065913..53067901-chr20:53077459..53079852,2	MCF-7	breast:
50	chr20:52823411..52826205-chr20:52895497..52899712,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CYP24A1-1	chr20:52904265-52904357	XLOC_013803
2	lnc-CYP24A1-1	chr20:52873712-52874028	XLOC_013803

No data

Variant related genes	Relation type
ENSG00000196562	chromatin interactions
ENSG00000154124	chromatin interactions
ENSG00000169155	chromatin interactions
ENSG00000163634	chromatin interactions
ENSG00000253806	chromatin interactions
ENSG00000105699	chromatin interactions
ENSG00000101134	chromatin interactions
ENSG00000103194	chromatin interactions
ENSG00000213930	chromatin interactions
ENSG00000206737	chromatin interactions
ENSG00000226017	chromatin interactions
ENSG00000196331	chromatin interactions
ENSG00000197958	chromatin interactions
ENSG00000124171	chromatin interactions
ENSG00000260879	chromatin interactions
ENSG00000177303	chromatin interactions
ENSG00000224738	chromatin interactions
ENSG00000201524	chromatin interactions
ENSG00000137070	chromatin interactions
ENSG00000197153	chromatin interactions
ENSG00000163635	chromatin interactions
ENSG00000108395	chromatin interactions
ENSG00000233224	chromatin interactions
ENSG00000148356	chromatin interactions
ENSG00000139624	chromatin interactions
ENSG00000124225	chromatin interactions
ENSG00000101040	chromatin interactions
ENSG00000170634	chromatin interactions
ENSG00000258728	chromatin interactions
ENSG00000199347	chromatin interactions
ENSG00000167644	chromatin interactions
ENSG00000137106	chromatin interactions
ENSG00000255498	chromatin interactions
ENSG00000143294	chromatin interactions
ENSG00000253741	chromatin interactions
ENSG00000258947	chromatin interactions
ENSG00000106415	chromatin interactions
ENSG00000085491	chromatin interactions
ENSG00000182871	chromatin interactions
ENSG00000200156	chromatin interactions
ENSG00000259006	chromatin interactions
ENSG00000201801	chromatin interactions
ENSG00000101144	chromatin interactions
ENSG00000171940	chromatin interactions
ENSG00000132823	chromatin interactions
ENSG00000234776	chromatin interactions
ENSG00000223891	chromatin interactions
ENSG00000253989	chromatin interactions
ENSG00000261360	chromatin interactions
ENSG00000143590	chromatin interactions
ENSG00000062716	chromatin interactions
ENSG00000101132	chromatin interactions
ENSG00000141376	chromatin interactions
ENSG00000130193	chromatin interactions
ENSG00000212195	chromatin interactions

Extended variants
information (count: 7520 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:7520 , 50 per page) page: 1 2 3 4 5 6 7 ... 151

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540407023	chr20:52861687-52861688	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs560328172	chr20:52861722-52861723	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs576884052	chr20:52861730-52861731	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs145930635	chr20:52861734-52861735	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs139819541	chr20:52861752-52861753	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs531722817	chr20:52861833-52861834	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs548326662	chr20:52861928-52861929	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs561144316	chr20:52861939-52861940	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs530037667	chr20:52861942-52861943	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs192392764	chr20:52861973-52861974	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs183455223	chr20:52861986-52861987	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs527869355	chr20:52862004-52862005	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs111921817	chr20:52862016-52862017	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs552247624	chr20:52862017-52862018	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs139874160	chr20:52862092-52862093	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs559835536	chr20:52862133-52862134	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs149814876	chr20:52862150-52862151	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs368933	chr20:52862251-52862252	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs574766497	chr20:52862266-52862267	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs147931810	chr20:52862286-52862287	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs553898084	chr20:52862326-52862327	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs186682244	chr20:52862336-52862337	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs547559500	chr20:52862345-52862346	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs562983557	chr20:52862396-52862397	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs576486843	chr20:52862435-52862436	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs35492231	chr20:52862443-52862444	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs1382007	chr20:52862457-52862458	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs73914316	chr20:52862460-52862461	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs566056521	chr20:52862481-52862482	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs546919683	chr20:52862493-52862494	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs192242206	chr20:52862509-52862510	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs560477415	chr20:52862510-52862511	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs35368363	chr20:52862536-52862537	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs397695552	chr20:52862543-52862544	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs532328448	chr20:52862548-52862549	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs184635417	chr20:52862552-52862553	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs187038635	chr20:52862579-52862580	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs6068846	chr20:52862596-52862597	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs189550745	chr20:52862620-52862621	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs569217547	chr20:52862630-52862631	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs547740507	chr20:52862666-52862667	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs567719491	chr20:52862676-52862677	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs192913036	chr20:52862687-52862688	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs145679367	chr20:52862717-52862718	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs373343020	chr20:52862767-52862768	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs577501352	chr20:52862777-52862778	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs538453796	chr20:52862807-52862808	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs6123368	chr20:52862820-52862821	Inactive region	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs556500520	chr20:52862854-52862855	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs576446433	chr20:52862901-52862902	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD
Osteosarcoma	21215367	CNVD
Gastric cancer	22014070	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:741 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52865400-52871000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr20:52867200-52867600	Active TSS	A549	lung
3	chr20:52867400-52867800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr20:52867400-52868200	Enhancers	Hela-S3	cervix
5	chr20:52867800-52870800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr20:52868000-52868200	Enhancers	Placenta Amnion	Placenta Amnion
7	chr20:52868000-52868400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr20:52868200-52871400	Weak transcription	Hela-S3	cervix
9	chr20:52868200-52871800	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr20:52868400-52868800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr20:52868800-52869400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr20:52869200-52869600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr20:52870600-52874400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr20:52870800-52874200	Enhancers	Muscle Satellite Cultured Cells	--
15	chr20:52870800-52874400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr20:52871000-52871200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr20:52871000-52871200	Enhancers	Gastric	stomach
18	chr20:52871000-52875000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr20:52871000-52875000	Enhancers	HMEC	breast
20	chr20:52871000-52875400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr20:52871200-52872000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr20:52871200-52874200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr20:52871200-52875000	Enhancers	NHEK	skin
24	chr20:52871400-52871800	Enhancers	NH-A	brain
25	chr20:52871400-52874200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr20:52871400-52874400	Enhancers	Hela-S3	cervix
27	chr20:52871400-52874400	Enhancers	Osteobl	bone
28	chr20:52871400-52875000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr20:52871800-52872000	Enhancers	Gastric	stomach
30	chr20:52871800-52872000	Enhancers	Placenta Amnion	Placenta Amnion
31	chr20:52871800-52872200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr20:52871800-52872200	Flanking Active TSS	NH-A	brain
33	chr20:52871800-52874000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr20:52871800-52874000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr20:52871800-52874200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr20:52872000-52872200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr20:52872000-52872400	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr20:52872000-52874200	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr20:52872200-52873000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr20:52872200-52873000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr20:52872200-52874400	Enhancers	NH-A	brain
42	chr20:52872400-52875000	Enhancers	Placenta Amnion	Placenta Amnion
43	chr20:52872600-52872800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr20:52872800-52873800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr20:52872800-52883800	Weak transcription	Pancreas	Pancrea
46	chr20:52873000-52873200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr20:52873000-52873400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr20:52873000-52874200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr20:52873000-52874200	Enhancers	NHLF	lung
50	chr20:52873200-52874000	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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