Variant report

Variant	nsv912791
Chromosome Location	chr20:15702037-15759361
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:15750671..15752397-chr20:15882354..15885004,2	MCF-7	breast:
2	chr20:15719119..15720725-chr20:15723805..15725405,2	MCF-7	breast:
3	chr20:15725311..15727779-chr20:15728429..15730816,2	K562	blood:
4	chr20:15725311..15727779-chr20:15728429..15730816,2	K562	blood:
5	chr20:15719119..15720725-chr20:15723805..15725405,2	MCF-7	breast:
6	chr20:15752035..15754742-chr9:125427247..125429430,2	MCF-7	breast:

Extended variants
information (count: 1530 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:1530 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530757901	chr20:15704229-15704230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs548866304	chr20:15704252-15704253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs11906604	chr20:15704255-15704256	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs528289122	chr20:15704282-15704283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs371647745	chr20:15704284-15704285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs77195278	chr20:15704298-15704299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs571678420	chr20:15704318-15704319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs201287684	chr20:15704413-15704414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs147371678	chr20:15704484-15704485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs140926551	chr20:15704637-15704638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs569278446	chr20:15704638-15704639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs12106137	chr20:15704647-15704648	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs554981537	chr20:15704649-15704650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs181023758	chr20:15704659-15704660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs534154900	chr20:15704698-15704699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs185082349	chr20:15704729-15704730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs59000635	chr20:15704779-15704780	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs190615172	chr20:15704799-15704800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs2179623	chr20:15704813-15704814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs375285198	chr20:15704914-15704915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs544674276	chr20:15704953-15704954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs184101592	chr20:15704970-15704971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs528267888	chr20:15704984-15704985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs187063538	chr20:15704987-15704988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs542736453	chr20:15719264-15719265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs150997335	chr20:15719292-15719293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs528485389	chr20:15719329-15719330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs573910697	chr20:15719334-15719335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs116801734	chr20:15719343-15719344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs571672179	chr20:15719360-15719361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs532656984	chr20:15719421-15719422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs551276524	chr20:15719487-15719488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs16996441	chr20:15719488-15719489	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs185560239	chr20:15719578-15719579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs555031897	chr20:15719586-15719587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs553254069	chr20:15719657-15719658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs567069737	chr20:15719687-15719688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs534414976	chr20:15719688-15719689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs573147087	chr20:15719716-15719717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs545419450	chr20:15719745-15719746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs531687393	chr20:15719757-15719758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs190065970	chr20:15719763-15719764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs140716399	chr20:15719800-15719801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs544948199	chr20:15719815-15719816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs369933760	chr20:15719862-15719863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs373406298	chr20:15719884-15719885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs76396237	chr20:15719894-15719895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs549874418	chr20:15719949-15719950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs575330803	chr20:15719966-15719967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs181708502	chr20:15719976-15719977	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Non-small cell lung cancer	16651412	CNVD

Chromatin state (count:205 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:15704200-15705000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr20:15719200-15720800	Enhancers	Hela-S3	cervix
3	chr20:15719800-15721200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr20:15719800-15721600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr20:15720000-15721200	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr20:15720000-15721600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr20:15720200-15721000	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr20:15720200-15721200	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr20:15720200-15721200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr20:15720400-15721000	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr20:15720400-15721000	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr20:15720400-15721400	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr20:15720400-15722000	Enhancers	HMEC	breast
14	chr20:15720600-15721200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr20:15720600-15721600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr20:15720600-15721600	Enhancers	NHEK	skin
17	chr20:15720800-15721200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr20:15720800-15721200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr20:15720800-15721200	Enhancers	Fetal Kidney	kidney
20	chr20:15720800-15723200	Weak transcription	Hela-S3	cervix
21	chr20:15721000-15721600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr20:15721200-15723600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr20:15721200-15724200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr20:15721600-15722600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr20:15721600-15723000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr20:15721600-15723000	Weak transcription	NHEK	skin
27	chr20:15722000-15722600	Weak transcription	HMEC	breast
28	chr20:15722600-15723600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr20:15722600-15723600	Enhancers	HMEC	breast
30	chr20:15723000-15723200	Enhancers	Fetal Kidney	kidney
31	chr20:15723000-15723400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr20:15723000-15723400	Enhancers	Muscle Satellite Cultured Cells	--
33	chr20:15723000-15723800	Enhancers	NHEK	skin
34	chr20:15723200-15723600	Enhancers	Hela-S3	cervix
35	chr20:15723400-15729800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr20:15723600-15723800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr20:15723800-15731000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr20:15724200-15724400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr20:15727600-15728200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
40	chr20:15735600-15737600	Enhancers	Fetal Brain Male	brain
41	chr20:15735800-15737200	Enhancers	Brain Germinal Matrix	brain
42	chr20:15736000-15736600	Enhancers	Brain Hippocampus Middle	brain
43	chr20:15736200-15736600	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr20:15736400-15736600	Enhancers	Brain Substantia Nigra	brain
45	chr20:15736400-15737400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr20:15736400-15737600	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr20:15736600-15736800	Enhancers	Brain Angular Gyrus	brain
48	chr20:15736600-15736800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
49	chr20:15736600-15736800	Flanking Active TSS	Brain Substantia Nigra	brain
50	chr20:15736600-15737000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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