Variant report

Variant	esv2763218
Chromosome Location	chr20:12717131-12728818
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:12550689..12551200-chr20:12721396..12721909,2	MCF-7	breast:

Extended variants
information (count: 578 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:578 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545532452	chr20:12717153-12717154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs188075008	chr20:12717199-12717200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs565117103	chr20:12717206-12717207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs542156831	chr20:12717237-12717238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs6078737	chr20:12717322-12717323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs76052986	chr20:12717334-12717335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs117330587	chr20:12717403-12717404	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs115187211	chr20:12717439-12717440	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs78902313	chr20:12717453-12717454	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs75496201	chr20:12717457-12717458	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs556793197	chr20:12717480-12717481	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs376059161	chr20:12717494-12717495	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs576349779	chr20:12717502-12717503	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs544967536	chr20:12717549-12717550	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs530335387	chr20:12717577-12717578	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112097034	chr20:12717581-12717582	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs145588977	chr20:12717599-12717600	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs370668550	chr20:12717610-12717611	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs950432	chr20:12717617-12717618	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs137875018	chr20:12717663-12717664	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs142395761	chr20:12717679-12717680	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs563542611	chr20:12717686-12717687	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs532461248	chr20:12717689-12717690	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs552152448	chr20:12717703-12717704	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs373192780	chr20:12717704-12717705	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs534642134	chr20:12717756-12717757	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112501805	chr20:12717760-12717761	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs568089413	chr20:12717781-12717782	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs536825591	chr20:12717825-12717826	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs556496083	chr20:12717833-12717834	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs182887079	chr20:12717852-12717853	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs538943937	chr20:12717923-12717924	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs187590909	chr20:12717946-12717947	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs191660863	chr20:12717972-12717973	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs541097233	chr20:12717978-12717979	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs570026442	chr20:12717984-12717985	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555021195	chr20:12718062-12718063	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs574853735	chr20:12718072-12718073	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs543565672	chr20:12718079-12718080	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs561797968	chr20:12718080-12718081	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs12480996	chr20:12718109-12718110	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs546109040	chr20:12718125-12718126	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs184907281	chr20:12718127-12718128	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs528065526	chr20:12718134-12718135	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs148638649	chr20:12718179-12718180	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs568112939	chr20:12718182-12718183	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530529488	chr20:12718194-12718195	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs79574248	chr20:12718211-12718212	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs569906145	chr20:12718213-12718214	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs538881990	chr20:12718239-12718240	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Breast cancer	16397240	CNVD
abortions and stillbirths	19751515	CNVD
Wilms tumour	21544195	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	16272173	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	19627613	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Central neurocytomas	17123091	CNVD
Colorectal cancer	16272173	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	20729466	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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Glaucoma	21310917	CNVD
Alagille syndrome	22470819	CNVD
Lung cancer	16773561	CNVD
Renal cell carcinoma	18765545	CNVD
Alagille syndrome	17576883	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Prostate cancer	18632612	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Myelofibrosis	22110671	CNVD
Kabuki syndrome	21720541	CNVD
Glioblastoma multiforme	22286061	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Neurocytoma	17123091	CNVD
Autism	22102821	CNVD

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:12703200-12724200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr20:12716800-12717200	Enhancers	Placenta	Placenta
3	chr20:12717200-12718200	Weak transcription	Placenta	Placenta
4	chr20:12717400-12718000	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr20:12717400-12719400	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr20:12717800-12719400	Enhancers	Aorta	Aorta
7	chr20:12718200-12718400	Enhancers	Placenta	Placenta
8	chr20:12719400-12724400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr20:12720200-12728800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr20:12723800-12724000	Enhancers	H9 Cell Line	embryonic stem cell
11	chr20:12724000-12724200	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr20:12724000-12725600	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr20:12724000-12725800	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr20:12724000-12728000	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr20:12724200-12725000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
16	chr20:12724200-12725000	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr20:12724400-12725200	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr20:12724800-12725200	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr20:12725000-12725200	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr20:12725000-12728800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr20:12725200-12726600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr20:12725200-12728600	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr20:12725200-12728800	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr20:12725600-12728600	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr20:12725800-12726200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr20:12726200-12727400	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr20:12726600-12726800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr20:12726600-12727200	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr20:12727200-12728600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr20:12727400-12728800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr20:12728000-12732000	Enhancers	H9 Cell Line	embryonic stem cell
32	chr20:12728600-12728800	Enhancers	H1 Cell Line	embryonic stem cell
33	chr20:12728600-12730000	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr20:12728600-12730400	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr20:12728600-12733000	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr20:12728600-12733000	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr20:12728800-12729200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr20:12728800-12729400	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr20:12728800-12729400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr20:12728800-12729800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
41	chr20:12728800-12729800	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr20:12728800-12730000	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr20:12728800-12733200	Enhancers	iPS-15b Cell Line	embryonic stem cell

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