Variant report

Variant	nsv544276
Chromosome Location	chr20:41087948-41217672
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:54)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:54 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr20:41183351..41185462-chr20:41211169..41213368,2	MCF-7	breast:
2	chr20:41079653..41081219-chr20:41094623..41097102,2	MCF-7	breast:
3	chr1:115211782..115214223-chr20:41134419..41137022,2	MCF-7	breast:
4	chr1:115342936..115345601-chr20:41151538..41153533,2	MCF-7	breast:
5	chr20:41210269..41211939-chr20:41214857..41217644,2	MCF-7	breast:
6	chr20:41150606..41154856-chr20:41155913..41160974,4	MCF-7	breast:
7	chr20:41098700..41100778-chr20:41109323..41111308,2	MCF-7	breast:
8	chr1:115299103..115300612-chr20:41104208..41105960,2	MCF-7	breast:
9	chr20:41186370..41189085-chr20:41189896..41191987,2	MCF-7	breast:
10	chr1:115322010..115324923-chr20:41157640..41159690,2	MCF-7	breast:
11	chr20:41148020..41150135-chr20:41153331..41155714,2	K562	blood:
12	chr20:41190947..41193604-chr20:41196031..41197655,2	MCF-7	breast:
13	chr20:41169178..41171278-chr20:41173910..41175582,2	MCF-7	breast:
14	chr20:41153100..41156959-chr20:41167478..41169513,3	K562	blood:
15	chr20:41156659..41159808-chr20:41161331..41164447,3	MCF-7	breast:
16	chr20:40832621..40833511-chr20:41158812..41160167,5	MCF-7	breast:
17	chr20:41189320..41191294-chr20:41193549..41196029,2	MCF-7	breast:
18	chr20:41148020..41150135-chr20:41153331..41155714,2	K562	blood:
19	chr20:41190947..41193604-chr20:41196031..41197655,2	MCF-7	breast:
20	chr20:41186370..41189085-chr20:41189896..41191987,2	MCF-7	breast:
21	chr20:41098700..41100778-chr20:41109323..41111308,2	MCF-7	breast:
22	chr20:41189320..41191294-chr20:41193549..41196029,2	MCF-7	breast:
23	chr20:41112093..41113034-chr20:41158800..41160071,4	MCF-7	breast:
24	chr20:41183351..41185462-chr20:41211169..41213368,2	MCF-7	breast:
25	chr20:41095500..41098337-chr20:41104090..41106503,2	MCF-7	breast:
26	chr1:115299973..115301920-chr20:41130457..41133153,2	MCF-7	breast:
27	chr20:41158587..41161005-chr20:41184135..41185897,2	MCF-7	breast:
28	chr20:41183922..41185722-chr20:41188691..41191209,2	K562	blood:
29	chr20:41153100..41156959-chr20:41167478..41169513,3	K562	blood:
30	chr20:41112093..41113034-chr20:41158800..41160071,4	MCF-7	breast:
31	chr20:41183922..41185722-chr20:41188691..41191209,2	K562	blood:
32	chr20:40367029..40367531-chr20:41159523..41160164,2	MCF-7	breast:
33	chr20:41150606..41154856-chr20:41155913..41160974,4	MCF-7	breast:
34	chr20:41161976..41163501-chr20:41178008..41179846,2	MCF-7	breast:
35	chr20:41106434..41108888-chr20:41112524..41115086,2	MCF-7	breast:
36	chr20:41156659..41159808-chr20:41161331..41164447,3	MCF-7	breast:
37	chr20:41154320..41156959-chr20:41167704..41169513,2	K562	blood:
38	chr1:115223230..115223759-chr20:41159215..41160064,2	MCF-7	breast:
39	chr20:41158587..41161005-chr20:41184135..41185897,2	MCF-7	breast:
40	chr20:41095500..41098337-chr20:41104090..41106503,2	MCF-7	breast:
41	chr17:63119469..63120108-chr20:41117749..41118269,2	HCT-116	colon:
42	chr20:41123580..41125405-chr20:41126881..41128837,2	K562	blood:
43	chr20:41161976..41163501-chr20:41178008..41179846,2	MCF-7	breast:
44	chr20:41083008..41085007-chr20:41112917..41114827,2	MCF-7	breast:
45	chr20:41111361..41112918-chr20:41159329..41160293,5	MCF-7	breast:
46	chr20:41210269..41211939-chr20:41214857..41217644,2	MCF-7	breast:
47	chr20:41111361..41112918-chr20:41159329..41160293,5	MCF-7	breast:
48	chr20:40656318..40657155-chr20:41159287..41160221,3	MCF-7	breast:
49	chr1:115299136..115301683-chr20:41145782..41147834,2	MCF-7	breast:
50	chr20:41123580..41125405-chr20:41126881..41128837,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000052723	chromatin interactions
ENSG00000009307	chromatin interactions
ENSG00000175984	chromatin interactions

Extended variants
information (count: 4356 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:4356 , 50 per page) page: 1 2 3 4 5 6 7 ... 88

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74909138	chr20:41087963-41087964	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs542641796	chr20:41087964-41087965	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs533736641	chr20:41087974-41087975	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs371593505	chr20:41088042-41088043	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs143588888	chr20:41088092-41088093	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs189151545	chr20:41088147-41088148	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs6124461	chr20:41088168-41088169	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs543330574	chr20:41088174-41088175	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs181042464	chr20:41088175-41088176	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs575782544	chr20:41088182-41088183	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs544823242	chr20:41088188-41088189	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs531734803	chr20:41088194-41088195	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs564800773	chr20:41088235-41088236	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs115687400	chr20:41088287-41088288	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs6124462	chr20:41088413-41088414	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs540241353	chr20:41088422-41088423	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs6124463	chr20:41088427-41088428	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs73271583	chr20:41088520-41088521	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs146530414	chr20:41088522-41088523	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs543067422	chr20:41088542-41088543	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs562975586	chr20:41088569-41088570	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs565190662	chr20:41088623-41088624	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs141125181	chr20:41088633-41088634	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs62203539	chr20:41088636-41088637	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs528018901	chr20:41088638-41088639	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566403443	chr20:41088643-41088644	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs547076284	chr20:41088706-41088707	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs530401876	chr20:41088727-41088728	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373982735	chr20:41088728-41088729	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs565136321	chr20:41088738-41088739	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs151201550	chr20:41088739-41088740	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs186278953	chr20:41088768-41088769	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs11697017	chr20:41088794-41088795	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs114693865	chr20:41088868-41088869	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs140263928	chr20:41088935-41088936	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs150332756	chr20:41088989-41088990	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs137991040	chr20:41089000-41089001	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs142001283	chr20:41089032-41089033	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs554577856	chr20:41089045-41089046	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs62203540	chr20:41089066-41089067	Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs2049969	chr20:41089079-41089080	Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs145777708	chr20:41089105-41089106	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs531878475	chr20:41089173-41089174	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs62203541	chr20:41089180-41089181	Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs79911592	chr20:41089196-41089197	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs370230361	chr20:41089263-41089264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs74273602	chr20:41089331-41089332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs570386718	chr20:41089338-41089339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs565528430	chr20:41089355-41089356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs527971704	chr20:41089359-41089360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Thoracic aortic aneurysm	21092924	CNVD
Colorectal cancer	21645411	CNVD
Autism	22495311	CNVD
Anaplastic large cell lymphoma	18179710	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
Soft tissue tumor	16732325	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
Bladder cancer	21909424	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Breast cancer	16608533	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	21364760	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Oral cancer	21386901	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Ovarian cancer	19193619	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Myelodysplastic syndrome	17634407	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Ductal carcinoma	22052326	CNVD
Prostate cancer	18632612	CNVD
Gastric cancer	22539939	CNVD
Myelofibrosis	22110671	CNVD
Cervical cancer	16585170	CNVD
Ovarian neoplasms	16753589	CNVD
Infertility	21528002	CNVD
Hepatocellular carcinoma	16750200	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Gastric cancer	16891809	CNVD
Multiple myeloma	16616336	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Malignant melanoma	17260012	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Colorectal cancer	16774939	CNVD
Cervical cancer	21062161	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	20585902	CNVD
Ductal carcinoma	18381933	CNVD
Cancer	21129771	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
early-passage human iPS cells	21368824	CNVD
Gastric cancer	22014070	CNVD

Chromatin state (count:207 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:41087200-41089200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
2	chr20:41088800-41089200	Enhancers	Fetal Muscle Leg	muscle
3	chr20:41089000-41089200	Enhancers	Right Atrium	heart
4	chr20:41089000-41089400	Enhancers	Brain Germinal Matrix	brain
5	chr20:41089200-41094600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr20:41089400-41090800	Weak transcription	Right Atrium	heart
7	chr20:41090200-41090800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr20:41090200-41091600	Enhancers	GM12878-XiMat	blood
9	chr20:41090200-41091800	Enhancers	Adipose Nuclei	Adipose
10	chr20:41090800-41091800	Enhancers	Right Atrium	heart
11	chr20:41090800-41091800	Enhancers	Right Ventricle	heart
12	chr20:41090800-41092000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr20:41090800-41092600	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr20:41091000-41091200	Enhancers	Stomach Smooth Muscle	stomach
15	chr20:41091000-41091600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr20:41091000-41091800	Enhancers	H1 Cell Line	embryonic stem cell
17	chr20:41091000-41091800	Enhancers	Spleen	Spleen
18	chr20:41091000-41092600	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr20:41091000-41092800	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr20:41091200-41092800	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr20:41091400-41092600	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr20:41091800-41096800	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr20:41092000-41092400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr20:41092400-41092600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr20:41092600-41096400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr20:41092800-41097000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr20:41094600-41095800	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr20:41095800-41099200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr20:41096400-41096800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr20:41096800-41097600	Enhancers	H1 Cell Line	embryonic stem cell
31	chr20:41097000-41097800	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr20:41099000-41099400	Enhancers	Fetal Muscle Leg	muscle
33	chr20:41099000-41102800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr20:41099200-41099400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr20:41099400-41101200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr20:41099400-41112400	Weak transcription	Fetal Muscle Leg	muscle
37	chr20:41099600-41102200	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr20:41101200-41102800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr20:41102200-41104200	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr20:41102800-41103400	Enhancers	Fetal Thymus	thymus
41	chr20:41102800-41104200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr20:41102800-41104800	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr20:41103000-41103600	Enhancers	Brain Germinal Matrix	brain
44	chr20:41103000-41103600	Enhancers	Fetal Muscle Trunk	muscle
45	chr20:41103000-41103600	Enhancers	Gastric	stomach
46	chr20:41103600-41105600	Weak transcription	Gastric	stomach
47	chr20:41104200-41105800	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr20:41105600-41106400	Enhancers	Gastric	stomach
49	chr20:41105800-41106000	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr20:41111800-41113600	Enhancers	Fetal Brain Male	brain

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