Variant report

Variant	nsv458935
Chromosome Location	chr20:15796658-15816595
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:

Extended variants
information (count: 629 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:629 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6135557	chr20:15796658-15796659	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs190104289	chr20:15796659-15796660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs367618877	chr20:15796670-15796671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs181789672	chr20:15796675-15796676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs531777264	chr20:15796679-15796680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs377338377	chr20:15796696-15796697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs553545869	chr20:15796700-15796701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs575042859	chr20:15796732-15796733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs541497118	chr20:15796753-15796754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs535704083	chr20:15796797-15796798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs6131727	chr20:15796805-15796806	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs374868187	chr20:15796814-15796815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs116242310	chr20:15796815-15796816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs148413098	chr20:15796835-15796836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs554191997	chr20:15796864-15796865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs566322925	chr20:15796865-15796866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs16996620	chr20:15796902-15796903	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs73614460	chr20:15796978-15796979	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs576992024	chr20:15796980-15796981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs184956264	chr20:15796983-15796984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs146461494	chr20:15796984-15796985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs575026106	chr20:15796993-15796994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs542337835	chr20:15797003-15797004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs140885096	chr20:15797004-15797005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs572333661	chr20:15797006-15797007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs73248206	chr20:15797028-15797029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs564594370	chr20:15797039-15797040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs531790547	chr20:15797047-15797048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs189855644	chr20:15797054-15797055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs35132854	chr20:15797083-15797084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs578064217	chr20:15797093-15797094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs151296583	chr20:15797121-15797122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs397971064	chr20:15797131-15797132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs1990396	chr20:15797149-15797150	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs146613390	chr20:15797158-15797159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs566481215	chr20:15797181-15797182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs533529422	chr20:15797221-15797222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs181054068	chr20:15797228-15797229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs185130665	chr20:15797229-15797230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs538126844	chr20:15797251-15797252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs113771885	chr20:15797258-15797259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs556442593	chr20:15797363-15797364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs150273352	chr20:15797378-15797379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs535985037	chr20:15797382-15797383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs553940009	chr20:15797387-15797388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs572426297	chr20:15797425-15797426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs545831136	chr20:15797427-15797428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs12624706	chr20:15797506-15797507	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs138943077	chr20:15797520-15797521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs189593592	chr20:15797522-15797523	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:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:15790200-15799000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr20:15796000-15796800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr20:15796000-15798200	Weak transcription	HSMMtube	muscle
4	chr20:15796000-15799000	Weak transcription	Liver	Liver
5	chr20:15796200-15798000	Weak transcription	HSMM	muscle
6	chr20:15796400-15798400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr20:15796800-15797600	Enhancers	Placenta Amnion	Placenta Amnion
8	chr20:15797600-15798400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr20:15798000-15798600	Enhancers	HSMM	muscle
10	chr20:15798200-15799800	Enhancers	Placenta	Placenta
11	chr20:15798200-15799800	Enhancers	HSMMtube	muscle
12	chr20:15798400-15799600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr20:15798400-15799800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr20:15798400-15799800	Enhancers	Placenta Amnion	Placenta Amnion
15	chr20:15798600-15799000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr20:15799000-15799200	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr20:15799000-15799600	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr20:15799000-15799600	Enhancers	Liver	Liver
19	chr20:15799000-15799600	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr20:15799000-15799800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr20:15799000-15799800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr20:15799000-15799800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr20:15799000-15799800	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr20:15799000-15799800	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr20:15799000-15799800	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr20:15799200-15799600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr20:15799200-15799600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr20:15799200-15799600	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr20:15799200-15799800	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr20:15799200-15799800	Enhancers	H1 Cell Line	embryonic stem cell
31	chr20:15799200-15799800	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr20:15799400-15799800	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr20:15799800-15801000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr20:15801000-15801800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr20:15805800-15806000	Enhancers	Gastric	stomach
36	chr20:15806000-15812000	Weak transcription	Gastric	stomach
37	chr20:15808000-15808200	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr20:15808000-15808600	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr20:15808000-15808800	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr20:15808000-15808800	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr20:15808200-15808600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr20:15808200-15808600	Enhancers	H9 Cell Line	embryonic stem cell
43	chr20:15808200-15808600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr20:15808800-15809000	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr20:15810400-15811400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr20:15811400-15812400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr20:15811400-15812400	Enhancers	NHEK	skin
48	chr20:15811600-15812000	Enhancers	Placenta Amnion	Placenta Amnion
49	chr20:15811600-15812400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr20:15811600-15812400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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