Variant report

Variant	nsv585440
Chromosome Location	chr20:14352394-14457834
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:14392722..14394222-chr20:14395947..14398400,2	MCF-7	breast:
2	chr20:14349761..14351392-chr20:14353398..14355373,2	K562	blood:
3	chr20:14392722..14394222-chr20:14395947..14398400,2	MCF-7	breast:
4	chr20:14419711..14421377-chr20:14423386..14425403,2	MCF-7	breast:
5	chr20:14419711..14421377-chr20:14423386..14425403,2	MCF-7	breast:

Extended variants
information (count: 3338 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:3338 , 50 per page) page: 1 2 3 4 5 6 7 ... 67

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs204648	chr20:14352394-14352395	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs79782246	chr20:14352412-14352413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs537191775	chr20:14352443-14352444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs534644631	chr20:14352455-14352456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs111251695	chr20:14352478-14352479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs112181179	chr20:14352479-14352480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs183369899	chr20:14352484-14352485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs552645284	chr20:14352493-14352494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572706704	chr20:14352542-14352543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs541350077	chr20:14352554-14352555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs567524946	chr20:14352559-14352560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs561192412	chr20:14352575-14352576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs58598158	chr20:14352579-14352580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs143599315	chr20:14352606-14352607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs1475745	chr20:14352641-14352642	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs532472619	chr20:14352681-14352682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs552545518	chr20:14352690-14352691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs1998234	chr20:14352702-14352703	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs112844923	chr20:14352703-14352704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs1998235	chr20:14352704-14352705	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs57235020	chr20:14352726-14352727	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs568292363	chr20:14352771-14352772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs537230054	chr20:14352781-14352782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs550764501	chr20:14352796-14352797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs4610130	chr20:14352805-14352806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs150938160	chr20:14352810-14352811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187287309	chr20:14352819-14352820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs191733360	chr20:14352844-14352845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572746904	chr20:14352893-14352894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs535353806	chr20:14352920-14352921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs554826046	chr20:14352929-14352930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs140673823	chr20:14352976-14352977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs5840613	chr20:14353027-14353028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs397792533	chr20:14353028-14353029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201625275	chr20:14353029-14353030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200180537	chr20:14353030-14353031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201094057	chr20:14353031-14353032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs6135133	chr20:14353054-14353055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs543631843	chr20:14353087-14353088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs1998236	chr20:14353101-14353102	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs561359911	chr20:14353135-14353136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs577278742	chr20:14353186-14353187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182460078	chr20:14353225-14353226	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs559746515	chr20:14353263-14353264	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs114427277	chr20:14353274-14353275	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs117250582	chr20:14353282-14353283	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540416722	chr20:14353306-14353307	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs1998237	chr20:14353346-14353347	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs116109671	chr20:14353361-14353362	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs371091078	chr20:14353368-14353369	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Breast cancer	17142309	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:468 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:14351400-14353400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr20:14351600-14354200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr20:14351600-14355200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr20:14351600-14356000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr20:14351600-14356200	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr20:14351600-14359000	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr20:14352000-14356400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr20:14352200-14354800	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr20:14353200-14357000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr20:14353200-14357200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr20:14353400-14353600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr20:14353400-14359400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr20:14353600-14354400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr20:14354000-14357200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr20:14354200-14354400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr20:14354200-14356600	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr20:14354400-14355200	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr20:14354400-14355200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr20:14354800-14355400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr20:14354800-14357000	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr20:14355200-14356000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr20:14355200-14356000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr20:14355200-14356600	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr20:14355400-14355800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr20:14355800-14356400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr20:14356000-14356400	Enhancers	Brain Germinal Matrix	brain
27	chr20:14356000-14356600	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr20:14356000-14356600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr20:14356000-14356600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr20:14356000-14357200	Enhancers	Fetal Intestine Large	intestine
31	chr20:14356000-14357200	Enhancers	Fetal Intestine Small	intestine
32	chr20:14356200-14356600	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr20:14356200-14356600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr20:14356200-14356600	Enhancers	Fetal Kidney	kidney
35	chr20:14356200-14356800	Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr20:14356400-14356600	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr20:14356600-14356800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr20:14356600-14365200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr20:14357000-14357400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr20:14357000-14357800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr20:14357200-14357800	Weak transcription	Fetal Intestine Large	intestine
42	chr20:14357200-14357800	Weak transcription	Fetal Intestine Small	intestine
43	chr20:14357200-14359000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr20:14357400-14358200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr20:14357800-14358800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr20:14357800-14359600	Enhancers	Fetal Intestine Small	intestine
47	chr20:14357800-14360400	Enhancers	Fetal Intestine Large	intestine
48	chr20:14358200-14358600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr20:14358600-14359600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr20:14358800-14359200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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