Variant report

Variant	nsv585449
Chromosome Location	chr20:14536862-14588168
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	chr19:30441690..30442493-chr20:14547650..14548282,2	MCF-7	breast:
2	chr20:12959607..12961682-chr20:14555879..14557670,2	K562	blood:

Extended variants
information (count: 1636 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:1636 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4814312	chr20:14536862-14536863	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs568897077	chr20:14536893-14536894	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs377259896	chr20:14536905-14536906	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs578004960	chr20:14536928-14536929	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs73901282	chr20:14536936-14536937	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs537446829	chr20:14536945-14536946	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs2224292	chr20:14536967-14536968	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs6079488	chr20:14536975-14536976	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs73258709	chr20:14537064-14537065	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs58920738	chr20:14537127-14537128	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs181773837	chr20:14537130-14537131	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs528766597	chr20:14537134-14537135	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540960014	chr20:14537146-14537147	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs2208126	chr20:14537160-14537161	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs532980121	chr20:14537163-14537164	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs4814313	chr20:14537168-14537169	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs73258717	chr20:14537284-14537285	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs79832654	chr20:14537335-14537336	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190110527	chr20:14537368-14537369	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549209368	chr20:14537378-14537379	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs545524208	chr20:14537379-14537380	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs567509311	chr20:14537393-14537394	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370654647	chr20:14537404-14537405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs534611611	chr20:14537417-14537418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs546899806	chr20:14537431-14537432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs558790499	chr20:14537524-14537525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs571534132	chr20:14537536-14537537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs368003352	chr20:14537555-14537556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs79528315	chr20:14537568-14537569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs374274296	chr20:14537578-14537579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs1884701	chr20:14537593-14537594	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs575334474	chr20:14537613-14537614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs567827568	chr20:14537644-14537645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs377327589	chr20:14537664-14537665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs554731830	chr20:14537693-14537694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs573131319	chr20:14537712-14537713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540557605	chr20:14537719-14537720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs565590151	chr20:14537817-14537818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs372630731	chr20:14537835-14537836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs139812016	chr20:14537845-14537846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs181782248	chr20:14537855-14537856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs563333337	chr20:14537873-14537874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs530614069	chr20:14537901-14537902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs143667186	chr20:14537903-14537904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs146726652	chr20:14537946-14537947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs572650767	chr20:14537954-14537955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs80183937	chr20:14537955-14537956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs546542696	chr20:14537972-14537973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs74179747	chr20:14537996-14537997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs571539635	chr20:14538003-14538004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Esophageal adenocarcinoma	18519675	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Autism	20531469	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:152 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:14534400-14537600	Enhancers	NHEK	skin
2	chr20:14534600-14537400	Enhancers	HMEC	breast
3	chr20:14534800-14537400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr20:14535000-14537400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr20:14535400-14540400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr20:14535400-14540400	Weak transcription	HSMM	muscle
7	chr20:14535400-14542000	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr20:14535400-14548800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr20:14535800-14537200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr20:14536200-14537000	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr20:14536800-14537400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr20:14537400-14540000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr20:14537400-14540400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr20:14537400-14540400	Weak transcription	HMEC	breast
15	chr20:14537600-14540400	Weak transcription	NHEK	skin
16	chr20:14540000-14541000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr20:14540400-14540800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr20:14540400-14540800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr20:14540400-14540800	Enhancers	HMEC	breast
20	chr20:14540400-14540800	Enhancers	HSMM	muscle
21	chr20:14540400-14541000	Enhancers	NHEK	skin
22	chr20:14540800-14542200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr20:14540800-14542400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr20:14540800-14545800	Weak transcription	HMEC	breast
25	chr20:14541000-14549000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr20:14542000-14542800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr20:14542000-14543000	Enhancers	Muscle Satellite Cultured Cells	--
28	chr20:14542200-14543600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr20:14542400-14542600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr20:14542800-14543800	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr20:14542800-14546800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr20:14543000-14547000	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr20:14543200-14543600	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr20:14543200-14543800	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr20:14543400-14543800	Enhancers	H1 Cell Line	embryonic stem cell
36	chr20:14543400-14543800	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr20:14543400-14543800	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr20:14543400-14543800	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr20:14543400-14543800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr20:14543400-14544000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr20:14543400-14544000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr20:14543400-14544000	Enhancers	Fetal Muscle Leg	muscle
43	chr20:14543400-14544200	Enhancers	Fetal Intestine Large	intestine
44	chr20:14543400-14544200	Enhancers	Fetal Intestine Small	intestine
45	chr20:14543600-14549000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr20:14544000-14545800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr20:14545800-14546000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr20:14546400-14546800	Enhancers	HSMM	muscle
49	chr20:14546800-14547600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr20:14546800-14547600	Weak transcription	HSMM	muscle

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