Variant report

Variant	nsv912793
Chromosome Location	chr20:15760969-15807441
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	chr20:15784951..15787296-chr20:15795585..15797238,2	MCF-7	breast:
2	chr20:15784951..15787296-chr20:15795585..15797238,2	MCF-7	breast:

Extended variants
information (count: 1552 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:1552 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4813196	chr20:15760969-15760970	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs6110781	chr20:15761013-15761014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs148034967	chr20:15761090-15761091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs532039084	chr20:15761107-15761108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs6105470	chr20:15761121-15761122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs371202223	chr20:15761164-15761165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs4813197	chr20:15761174-15761175	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs376147919	chr20:15761185-15761186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs12480226	chr20:15761192-15761193	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs555031035	chr20:15761193-15761194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs544893841	chr20:15761224-15761225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs541284177	chr20:15761249-15761250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs6135511	chr20:15761251-15761252	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs533204210	chr20:15761298-15761299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs141712684	chr20:15761320-15761321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs563835089	chr20:15761398-15761399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs74392176	chr20:15761400-15761401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs549366452	chr20:15761429-15761430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs551241466	chr20:15761432-15761433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs77919375	chr20:15761437-15761438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs6110782	chr20:15761477-15761478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs528463894	chr20:15761516-15761517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372180129	chr20:15761522-15761523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs561004627	chr20:15761526-15761527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs559158926	chr20:15761535-15761536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs7265588	chr20:15761559-15761560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs6043541	chr20:15761621-15761622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs557243281	chr20:15761622-15761623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs7265613	chr20:15761688-15761689	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs571716996	chr20:15761716-15761717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540859244	chr20:15761734-15761735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs76851826	chr20:15761785-15761786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs8118313	chr20:15761797-15761798	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs139969339	chr20:15761887-15761888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs553338778	chr20:15761903-15761904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370906198	chr20:15761908-15761909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577984139	chr20:15761922-15761923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs73900238	chr20:15761974-15761975	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs143194961	chr20:15761986-15761987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs531035813	chr20:15762101-15762102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs11087143	chr20:15762107-15762108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs66630321	chr20:15762108-15762109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs146187815	chr20:15762135-15762136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs6043542	chr20:15762152-15762153	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs528498574	chr20:15762156-15762157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs201036598	chr20:15762202-15762203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs386812796	chr20:15762203-15762204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs6043544	chr20:15762204-15762205	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs35705537	chr20:15762208-15762209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540613945	chr20:15762226-15762227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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

Chromatin state (count:191 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:15758200-15768800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr20:15760400-15765800	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr20:15765800-15766200	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr20:15765800-15766200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr20:15765800-15766400	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr20:15765800-15766600	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr20:15766000-15766200	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr20:15766000-15766200	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr20:15766000-15766400	Enhancers	H1 Cell Line	embryonic stem cell
10	chr20:15766000-15766400	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr20:15766000-15766400	Enhancers	Placenta	Placenta
12	chr20:15766200-15768400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr20:15766200-15768400	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr20:15766200-15768400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr20:15766400-15768200	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr20:15766400-15768600	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr20:15766400-15768600	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr20:15766600-15767000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr20:15767000-15767200	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr20:15767200-15769400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr20:15767200-15770800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr20:15767800-15770200	Enhancers	Brain Germinal Matrix	brain
23	chr20:15768000-15769800	Enhancers	Brain Cingulate Gyrus	brain
24	chr20:15768200-15769600	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr20:15768400-15769000	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr20:15768400-15769600	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr20:15768400-15770200	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr20:15768600-15769400	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr20:15768600-15769400	Enhancers	Brain Angular Gyrus	brain
30	chr20:15768600-15769600	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr20:15768600-15769600	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr20:15768600-15770200	Enhancers	H1 Cell Line	embryonic stem cell
33	chr20:15768800-15769000	Enhancers	Aorta	Aorta
34	chr20:15768800-15769000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr20:15768800-15769000	Enhancers	HUVEC	blood vessel
36	chr20:15768800-15769400	Enhancers	Brain Hippocampus Middle	brain
37	chr20:15768800-15769600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
38	chr20:15768800-15769600	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr20:15768800-15769600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr20:15768800-15769600	Enhancers	Brain Anterior Caudate	brain
41	chr20:15768800-15769800	Enhancers	Brain Substantia Nigra	brain
42	chr20:15768800-15770000	Enhancers	H9 Cell Line	embryonic stem cell
43	chr20:15768800-15770000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr20:15768800-15770200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr20:15768800-15770400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr20:15768800-15770400	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr20:15769000-15769200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
48	chr20:15769000-15769800	Weak transcription	Aorta	Aorta
49	chr20:15769200-15769600	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr20:15769400-15769600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell

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