Variant report

Variant	nsv433174
Chromosome Location	chr20:15312796-15318767
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: 235 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:235 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6079761	chr20:15312796-15312797	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs568540669	chr20:15312799-15312800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs140407661	chr20:15312838-15312839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs530062162	chr20:15313002-15313003	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs184837081	chr20:15313003-15313004	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs566522316	chr20:15313038-15313039	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189257740	chr20:15313039-15313040	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs181574697	chr20:15313058-15313059	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs540212241	chr20:15313080-15313081	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs185939433	chr20:15313098-15313099	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs191427631	chr20:15313133-15313134	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs79657930	chr20:15313176-15313177	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs574281911	chr20:15313191-15313192	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs541767510	chr20:15313227-15313228	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs143059867	chr20:15313228-15313229	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs6079762	chr20:15313232-15313233	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs73614407	chr20:15313254-15313255	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs6135391	chr20:15313255-15313256	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs181173618	chr20:15313280-15313281	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs186143898	chr20:15313303-15313304	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs111390537	chr20:15313338-15313339	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543537435	chr20:15313414-15313415	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs34839692	chr20:15313429-15313430	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs552003612	chr20:15313482-15313483	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs115685508	chr20:15313486-15313487	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs529507857	chr20:15313496-15313497	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs6079763	chr20:15313516-15313517	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs566389059	chr20:15313532-15313533	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs147005896	chr20:15313535-15313536	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs552174309	chr20:15313571-15313572	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs10534856	chr20:15313591-15313592	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs79870965	chr20:15313592-15313593	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs10534850	chr20:15313596-15313597	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs202239817	chr20:15313597-15313598	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs555980220	chr20:15313605-15313606	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs550810414	chr20:15313616-15313617	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs137945878	chr20:15313666-15313667	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs535275032	chr20:15313735-15313736	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs113518158	chr20:15313748-15313749	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs2423930	chr20:15313751-15313752	Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs536558622	chr20:15313757-15313758	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs572029435	chr20:15313784-15313785	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs28541600	chr20:15313826-15313827	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs558165674	chr20:15313895-15313896	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs6043213	chr20:15313903-15313904	Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs147166794	chr20:15313904-15313905	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs539087805	chr20:15313977-15313978	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs7272766	chr20:15314013-15314014	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs529368922	chr20:15314024-15314025	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs138420496	chr20:15314040-15314041	Enhancers Flanking Active TSS	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:35 , 50 per page) page: 1

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

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