Variant report

Variant	nsv1064358
Chromosome Location	chr20:41166455-41187459
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:41161976..41163501-chr20:41178008..41179846,2	MCF-7	breast:
2	chr20:41158587..41161005-chr20:41184135..41185897,2	MCF-7	breast:
3	chr20:41186370..41189085-chr20:41189896..41191987,2	MCF-7	breast:
4	chr20:41183351..41185462-chr20:41211169..41213368,2	MCF-7	breast:
5	chr20:41153100..41156959-chr20:41167478..41169513,3	K562	blood:
6	chr20:41169178..41171278-chr20:41173910..41175582,2	MCF-7	breast:
7	chr20:41169178..41171278-chr20:41173910..41175582,2	MCF-7	breast:
8	chr20:41183922..41185722-chr20:41188691..41191209,2	K562	blood:
9	chr20:41154320..41156959-chr20:41167704..41169513,2	K562	blood:

No data

Extended variants
information (count: 867 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:867 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6102891	chr20:41166455-41166456	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs574364132	chr20:41166479-41166480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs142443391	chr20:41166517-41166518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs150882930	chr20:41166537-41166538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs556245749	chr20:41166547-41166548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs533984496	chr20:41166554-41166555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs113544523	chr20:41166604-41166605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs562753121	chr20:41166669-41166670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs75372551	chr20:41166675-41166676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs187531641	chr20:41166684-41166685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs139351745	chr20:41166719-41166720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs368637542	chr20:41166775-41166776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs373572174	chr20:41166784-41166785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs80168572	chr20:41166789-41166790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs375170862	chr20:41166859-41166860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs77506614	chr20:41166863-41166864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561583123	chr20:41166867-41166868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs530374547	chr20:41166906-41166907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs138177433	chr20:41166925-41166926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549750868	chr20:41166930-41166931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs569595074	chr20:41166961-41166962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs191742260	chr20:41167000-41167001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs552023825	chr20:41167070-41167071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs6093672	chr20:41167128-41167129	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs374155799	chr20:41167159-41167160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs6130158	chr20:41167206-41167207	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs544186701	chr20:41167207-41167208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs150021289	chr20:41167224-41167225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs568025361	chr20:41167227-41167228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs147690328	chr20:41167238-41167239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs142386901	chr20:41167272-41167273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183984358	chr20:41167273-41167274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs74965247	chr20:41167300-41167301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs556550168	chr20:41167321-41167322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs572537051	chr20:41167328-41167329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs541652834	chr20:41167367-41167368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs561419188	chr20:41167398-41167399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs530311123	chr20:41167429-41167430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs543799808	chr20:41167431-41167432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs563995583	chr20:41167480-41167481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs532042299	chr20:41167486-41167487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs372267253	chr20:41167497-41167498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs1569908	chr20:41167512-41167513	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs545702034	chr20:41167517-41167518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs373622726	chr20:41167521-41167522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs559040055	chr20:41167605-41167606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs569582402	chr20:41167611-41167612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs528134945	chr20:41167622-41167623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs6030308	chr20:41167627-41167628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs144619923	chr20:41167654-41167655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
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
Myelofibrosis	22110671	CNVD
Cervical cancer	21062161	CNVD
Ovarian neoplasms	16753589	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
early-passage human iPS cells	21368824	CNVD
Gastric cancer	22014070	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:41160800-41173000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr20:41173000-41174200	Enhancers	Pancreas	Pancrea
3	chr20:41173000-41174400	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr20:41173600-41174200	Enhancers	Gastric	stomach
5	chr20:41174200-41178000	Weak transcription	Pancreas	Pancrea
6	chr20:41178200-41178400	Enhancers	Brain Germinal Matrix	brain
7	chr20:41178200-41179000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr20:41178400-41179200	Weak transcription	Brain Germinal Matrix	brain
9	chr20:41179200-41181000	Enhancers	Brain Germinal Matrix	brain
10	chr20:41181600-41182000	Enhancers	Duodenum Mucosa	Duodenum
11	chr20:41181800-41182200	Active TSS	GM12878-XiMat	blood
12	chr20:41182000-41182400	Enhancers	Duodenum Smooth Muscle	Duodenum
13	chr20:41182000-41182600	Active TSS	Duodenum Mucosa	Duodenum
14	chr20:41182200-41182600	Flanking Active TSS	GM12878-XiMat	blood
15	chr20:41182200-41182800	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr20:41182400-41182600	Enhancers	Right Atrium	heart
17	chr20:41182600-41187400	Weak transcription	Right Atrium	heart
18	chr20:41182800-41184000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr20:41184000-41185800	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr20:41185800-41197800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr20:41187400-41187600	ZNF genes & repeats	Right Atrium	heart

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