Variant report

Variant	nsv1057771
Chromosome Location	chr20:41241208-41287845
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:115296501..115298139-chr20:41277950..41280016,2	MCF-7	breast:
2	chr20:41221842..41223467-chr20:41282056..41284683,2	MCF-7	breast:
3	chr1:115299061..115301144-chr20:41248782..41252439,3	MCF-7	breast:
4	chr20:41235856..41237826-chr20:41240786..41243321,2	K562	blood:

Variant related genes	Relation type
ENSG00000009307	chromatin interactions

Extended variants
information (count: 1775 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:1775 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547925117	chr20:41241242-41241243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs28633724	chr20:41241258-41241259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs199693468	chr20:41241270-41241271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs143456383	chr20:41241319-41241320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs530388172	chr20:41241342-41241343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs550482377	chr20:41241363-41241364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs569699031	chr20:41241365-41241366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs111800201	chr20:41241371-41241372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs576871057	chr20:41241403-41241404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs188227939	chr20:41241408-41241409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs143885036	chr20:41241414-41241415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs370356177	chr20:41241470-41241471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs375393911	chr20:41241506-41241507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs534517450	chr20:41241548-41241549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs554718113	chr20:41241623-41241624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs551719957	chr20:41241681-41241682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs571789028	chr20:41241718-41241719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs6102949	chr20:41241722-41241723	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs556815067	chr20:41241742-41241743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs180929653	chr20:41241752-41241753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs185592756	chr20:41241755-41241756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs188687007	chr20:41241767-41241768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs572475721	chr20:41241775-41241776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs58355252	chr20:41241785-41241786	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs548551131	chr20:41241810-41241811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs530296963	chr20:41241873-41241874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs17841999	chr20:41241888-41241889	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs78920351	chr20:41241894-41241895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs561670954	chr20:41241905-41241906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs78324743	chr20:41241968-41241969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs565656243	chr20:41241971-41241972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs528153823	chr20:41242015-41242016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs528945045	chr20:41242049-41242050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs181464112	chr20:41242057-41242058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs568272920	chr20:41242070-41242071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs79703692	chr20:41242074-41242075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs186709945	chr20:41242077-41242078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs386814276	chr20:41242083-41242084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs58420604	chr20:41242084-41242085	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs550886655	chr20:41242151-41242152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs558877921	chr20:41242169-41242170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs147975290	chr20:41242174-41242175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs187606093	chr20:41242220-41242221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs74610906	chr20:41242289-41242290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs6030365	chr20:41242301-41242302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs575129216	chr20:41242394-41242395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs113811769	chr20:41242406-41242407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs563972346	chr20:41242440-41242441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs532823484	chr20:41242463-41242464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs545494112	chr20:41242481-41242482	Enhancers	n/a	n/a	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
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

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:41240000-41241600	Enhancers	Fetal Brain Male	brain
2	chr20:41240000-41242800	Enhancers	Fetal Muscle Leg	muscle
3	chr20:41240400-41241400	Enhancers	Fetal Stomach	stomach
4	chr20:41240600-41242200	Enhancers	Fetal Brain Female	brain
5	chr20:41241000-41242200	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr20:41241800-41242400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr20:41242800-41243000	Enhancers	Duodenum Smooth Muscle	Duodenum
8	chr20:41249200-41249600	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr20:41249200-41249600	Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr20:41249200-41249800	Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr20:41249200-41249800	Active TSS	Duodenum Mucosa	Duodenum
12	chr20:41251400-41252000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr20:41251400-41253800	Enhancers	NHEK	skin
14	chr20:41251600-41253600	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr20:41251800-41252400	Enhancers	H1 Cell Line	embryonic stem cell
16	chr20:41251800-41252600	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr20:41253600-41270200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr20:41257000-41258200	Enhancers	Liver	Liver
19	chr20:41263000-41263400	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr20:41263000-41264200	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr20:41270200-41270800	Enhancers	Pancreas	Pancrea
22	chr20:41270200-41271600	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr20:41271600-41300800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr20:41277000-41277400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr20:41278600-41279400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr20:41278800-41279400	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr20:41279000-41279400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr20:41281000-41281400	Enhancers	Gastric	stomach
29	chr20:41281200-41281600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr20:41281400-41285600	Weak transcription	Gastric	stomach
31	chr20:41284200-41285600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr20:41285000-41285400	Enhancers	Fetal Heart	heart
33	chr20:41285600-41286200	Enhancers	Gastric	stomach

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