Variant report

Variant	esv2599745
Chromosome Location	chr20:15310756-15321076
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	chr20:14335576..14337791-chr20:15315333..15317078,2	MCF-7	breast:

Extended variants
information (count: 397 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:397 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370944186	chr20:15310759-15310760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs530547234	chr20:15310763-15310764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs143615273	chr20:15310781-15310782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs546732359	chr20:15310826-15310827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs561107425	chr20:15310841-15310842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs528288758	chr20:15310866-15310867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs73265052	chr20:15310869-15310870	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs146796159	chr20:15310882-15310883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs532404102	chr20:15310883-15310884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs550722268	chr20:15310927-15310928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs183113096	chr20:15310944-15310945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548090419	chr20:15310951-15310952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs187488106	chr20:15310954-15310955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs554633967	chr20:15311012-15311013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs79794157	chr20:15311065-15311066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs558112261	chr20:15311072-15311073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs558686182	chr20:15311073-15311074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs577487868	chr20:15311102-15311103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs73265054	chr20:15311124-15311125	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs578167834	chr20:15311125-15311126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs566497937	chr20:15311130-15311131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs556716470	chr20:15311208-15311209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs191987493	chr20:15311210-15311211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs542402764	chr20:15311218-15311219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs560966820	chr20:15311267-15311268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs537354339	chr20:15311276-15311277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs113534493	chr20:15311277-15311278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs184144560	chr20:15311283-15311284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs144339138	chr20:15311284-15311285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs565047679	chr20:15311292-15311293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs6079755	chr20:15311304-15311305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs570150721	chr20:15311322-15311323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs150803829	chr20:15311325-15311326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs146576160	chr20:15311347-15311348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs537333830	chr20:15311381-15311382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs550838275	chr20:15311387-15311388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs569199245	chr20:15311403-15311404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs532195531	chr20:15311407-15311408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs6079756	chr20:15311431-15311432	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs566634720	chr20:15311471-15311472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs542647690	chr20:15311490-15311491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs112102290	chr20:15311519-15311520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs6079757	chr20:15311550-15311551	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs368844440	chr20:15311590-15311591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs6079758	chr20:15311604-15311605	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs6043210	chr20:15311611-15311612	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs574984158	chr20:15311621-15311622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs188219082	chr20:15311637-15311638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs545178896	chr20:15311638-15311639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs564941058	chr20:15311642-15311643	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Glioblastoma multiforme	21138945	CNVD
Cancer	20164919	CNVD
Multiple sclerosis	20663923	CNVD
Schizophrenia	20663923	CNVD
brain infarct	20663923	CNVD
Breast cancer	22522925	CNVD
Cancer	20164920	CNVD
Schizophrenia	23813976	CNVD
Esophageal adenocarcinoma	18519675	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Non-small cell lung cancer	16651412	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:15304200-15311000	Weak transcription	Fetal Heart	heart
2	chr20:15311000-15311200	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr20:15311000-15311600	Enhancers	Fetal Heart	heart
4	chr20:15311400-15311800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr20:15311800-15312600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr20:15312600-15312800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr20:15312600-15313000	Enhancers	GM12878-XiMat	blood
8	chr20:15312800-15313600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr20:15313000-15313400	Weak transcription	GM12878-XiMat	blood
10	chr20:15313000-15313600	Enhancers	Primary B cells from peripheral blood	blood
11	chr20:15313400-15313600	Active TSS	GM12878-XiMat	blood
12	chr20:15313600-15313800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr20:15313600-15314000	Flanking Active TSS	Primary B cells from peripheral blood	blood
14	chr20:15313600-15315000	Flanking Active TSS	GM12878-XiMat	blood
15	chr20:15314000-15314200	Enhancers	Primary B cells from peripheral blood	blood
16	chr20:15315000-15315400	Active TSS	GM12878-XiMat	blood
17	chr20:15315000-15316000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr20:15315400-15315600	Enhancers	GM12878-XiMat	blood
19	chr20:15315600-15315800	Flanking Active TSS	GM12878-XiMat	blood
20	chr20:15315800-15316600	Enhancers	GM12878-XiMat	blood
21	chr20:15315800-15317800	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr20:15316000-15316800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr20:15316200-15317200	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr20:15316400-15316800	Enhancers	H9 Cell Line	embryonic stem cell
25	chr20:15316400-15316800	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr20:15316400-15317400	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr20:15316400-15317600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr20:15316400-15317600	Enhancers	Placenta Amnion	Placenta Amnion
29	chr20:15316400-15317800	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr20:15316600-15316800	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr20:15316600-15317600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr20:15316600-15317600	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr20:15316800-15319200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr20:15317000-15317200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr20:15317200-15317600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr20:15317400-15318400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr20:15318200-15318400	Enhancers	Pancreatic Islets	Pancreatic Islet
38	chr20:15318400-15318600	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr20:15318400-15319000	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr20:15318600-15318800	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr20:15319000-15320400	Enhancers	Pancreatic Islets	Pancreatic Islet
42	chr20:15319200-15319600	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr20:15319400-15320200	Enhancers	Colon Smooth Muscle	Colon
44	chr20:15319600-15320200	Enhancers	Duodenum Smooth Muscle	Duodenum

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