Variant report

Variant	nsv817885
Chromosome Location	chr20:15308563-15317978
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: 398 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:398 , 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	rs2423924	chr20:15308563-15308564	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs75628589	chr20:15308568-15308569	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs555761298	chr20:15308592-15308593	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs372450663	chr20:15308616-15308617	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs2423925	chr20:15308630-15308631	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs112380555	chr20:15308677-15308678	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs541579906	chr20:15308726-15308727	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs377038878	chr20:15308797-15308798	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs138063713	chr20:15308805-15308806	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs115695548	chr20:15308851-15308852	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs370060805	chr20:15308906-15308907	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs545631935	chr20:15308911-15308912	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs543484084	chr20:15308926-15308927	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs6043209	chr20:15308932-15308933	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs529390312	chr20:15308958-15308959	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs114932037	chr20:15308963-15308964	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs549392631	chr20:15308971-15308972	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs568086433	chr20:15308987-15308988	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs75928862	chr20:15309016-15309017	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs6135389	chr20:15309019-15309020	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs186165542	chr20:15309062-15309063	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs528067561	chr20:15309064-15309065	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs6079753	chr20:15309089-15309090	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs2423926	chr20:15309124-15309125	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs140824157	chr20:15309156-15309157	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs569729789	chr20:15309162-15309163	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs537386007	chr20:15309176-15309177	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs555365970	chr20:15309215-15309216	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190585182	chr20:15309267-15309268	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs16995534	chr20:15309338-15309339	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs553367134	chr20:15309355-15309356	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs578159255	chr20:15309460-15309461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs6079754	chr20:15309468-15309469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545496827	chr20:15309481-15309482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs150179537	chr20:15309485-15309486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181367290	chr20:15309505-15309506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs138620441	chr20:15309546-15309547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368296086	chr20:15309553-15309554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs6074873	chr20:15309568-15309569	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs528721563	chr20:15309592-15309593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs547006969	chr20:15309600-15309601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs111900688	chr20:15309621-15309622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs79039011	chr20:15309623-15309624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs6135390	chr20:15309628-15309629	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs569873687	chr20:15309738-15309739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs555949029	chr20:15309774-15309775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs536852766	chr20:15309803-15309804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs549115179	chr20:15309828-15309829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs367704357	chr20:15309867-15309868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185691651	chr20:15309890-15309891	Weak transcription	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:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:15303400-15308800	Weak transcription	HMEC	breast
2	chr20:15304200-15311000	Weak transcription	Fetal Heart	heart
3	chr20:15308400-15309400	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr20:15308600-15309000	Enhancers	NHEK	skin
5	chr20:15308800-15309400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr20:15308800-15309400	Enhancers	HMEC	breast
7	chr20:15309400-15310600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr20:15311000-15311200	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr20:15311000-15311600	Enhancers	Fetal Heart	heart
10	chr20:15311400-15311800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr20:15311800-15312600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr20:15312600-15312800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr20:15312600-15313000	Enhancers	GM12878-XiMat	blood
14	chr20:15312800-15313600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr20:15313000-15313400	Weak transcription	GM12878-XiMat	blood
16	chr20:15313000-15313600	Enhancers	Primary B cells from peripheral blood	blood
17	chr20:15313400-15313600	Active TSS	GM12878-XiMat	blood
18	chr20:15313600-15313800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr20:15313600-15314000	Flanking Active TSS	Primary B cells from peripheral blood	blood
20	chr20:15313600-15315000	Flanking Active TSS	GM12878-XiMat	blood
21	chr20:15314000-15314200	Enhancers	Primary B cells from peripheral blood	blood
22	chr20:15315000-15315400	Active TSS	GM12878-XiMat	blood
23	chr20:15315000-15316000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr20:15315400-15315600	Enhancers	GM12878-XiMat	blood
25	chr20:15315600-15315800	Flanking Active TSS	GM12878-XiMat	blood
26	chr20:15315800-15316600	Enhancers	GM12878-XiMat	blood
27	chr20:15315800-15317800	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr20:15316000-15316800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr20:15316200-15317200	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr20:15316400-15316800	Enhancers	H9 Cell Line	embryonic stem cell
31	chr20:15316400-15316800	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr20:15316400-15317400	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr20:15316400-15317600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr20:15316400-15317600	Enhancers	Placenta Amnion	Placenta Amnion
35	chr20:15316400-15317800	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr20:15316600-15316800	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr20:15316600-15317600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr20:15316600-15317600	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr20:15316800-15319200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr20:15317000-15317200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr20:15317200-15317600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr20:15317400-15318400	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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