Variant report

Variant	nsv585644
Chromosome Location	chr20:15766727-15807441
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: 1341 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:1341 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6135515	chr20:15766727-15766728	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs555646254	chr20:15766743-15766744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs541910846	chr20:15766758-15766759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs192009364	chr20:15766778-15766779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs200575833	chr20:15766804-15766805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531048123	chr20:15766806-15766807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs541478155	chr20:15766807-15766808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201737277	chr20:15766815-15766816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs11474546	chr20:15766818-15766819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs184117518	chr20:15766827-15766828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs561320138	chr20:15766909-15766910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs188512632	chr20:15766968-15766969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs6110784	chr20:15766974-15766975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs545459578	chr20:15766979-15766980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs55848652	chr20:15767062-15767063	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs8122767	chr20:15767081-15767082	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs549954985	chr20:15767143-15767144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs561816706	chr20:15767175-15767176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs529095768	chr20:15767209-15767210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs547950001	chr20:15767218-15767219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs533206315	chr20:15767244-15767245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs59239072	chr20:15767257-15767258	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs533393170	chr20:15767262-15767263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs151124335	chr20:15767293-15767294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs73244100	chr20:15767336-15767337	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs560792771	chr20:15767350-15767351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs537306224	chr20:15767442-15767443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs532874988	chr20:15767514-15767515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs555931638	chr20:15767551-15767552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs567568662	chr20:15767584-15767585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs370829044	chr20:15767597-15767598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs372660983	chr20:15767598-15767599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs142624441	chr20:15767606-15767607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs181070398	chr20:15767609-15767610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs200138097	chr20:15767616-15767617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs139059481	chr20:15767635-15767636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs545798253	chr20:15767638-15767639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs184488730	chr20:15767639-15767640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs576286038	chr20:15767731-15767732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs543396897	chr20:15767736-15767737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs552206507	chr20:15767747-15767748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs141495810	chr20:15767765-15767766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs538412675	chr20:15767789-15767790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs189034392	chr20:15767836-15767837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs559910019	chr20:15767837-15767838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs537908022	chr20:15767848-15767849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs369379262	chr20:15767869-15767870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs551762197	chr20:15767870-15767871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs74175649	chr20:15767884-15767885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs182473062	chr20:15767893-15767894	Weak transcription Enhancers	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:181 , 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	chr20:15766200-15768400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr20:15766200-15768400	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr20:15766200-15768400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr20:15766400-15768200	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr20:15766400-15768600	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr20:15766400-15768600	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr20:15766600-15767000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr20:15767000-15767200	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr20:15767200-15769400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr20:15767200-15770800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr20:15767800-15770200	Enhancers	Brain Germinal Matrix	brain
13	chr20:15768000-15769800	Enhancers	Brain Cingulate Gyrus	brain
14	chr20:15768200-15769600	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr20:15768400-15769000	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr20:15768400-15769600	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr20:15768400-15770200	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr20:15768600-15769400	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr20:15768600-15769400	Enhancers	Brain Angular Gyrus	brain
20	chr20:15768600-15769600	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr20:15768600-15769600	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr20:15768600-15770200	Enhancers	H1 Cell Line	embryonic stem cell
23	chr20:15768800-15769000	Enhancers	Aorta	Aorta
24	chr20:15768800-15769000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr20:15768800-15769000	Enhancers	HUVEC	blood vessel
26	chr20:15768800-15769400	Enhancers	Brain Hippocampus Middle	brain
27	chr20:15768800-15769600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
28	chr20:15768800-15769600	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr20:15768800-15769600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr20:15768800-15769600	Enhancers	Brain Anterior Caudate	brain
31	chr20:15768800-15769800	Enhancers	Brain Substantia Nigra	brain
32	chr20:15768800-15770000	Enhancers	H9 Cell Line	embryonic stem cell
33	chr20:15768800-15770000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr20:15768800-15770200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr20:15768800-15770400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr20:15768800-15770400	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr20:15769000-15769200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
38	chr20:15769000-15769800	Weak transcription	Aorta	Aorta
39	chr20:15769200-15769600	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr20:15769400-15769600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
41	chr20:15769400-15769600	Flanking Active TSS	Brain Angular Gyrus	brain
42	chr20:15769400-15769600	Flanking Active TSS	Brain Hippocampus Middle	brain
43	chr20:15769400-15770000	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr20:15769600-15769800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
45	chr20:15769600-15769800	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr20:15769600-15769800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
47	chr20:15769600-15769800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr20:15769600-15769800	Active TSS	Brain Angular Gyrus	brain
49	chr20:15769600-15769800	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr20:15769600-15770000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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