Variant report

Variant	nsv585441
Chromosome Location	chr20:14374573-14455497
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:14419711..14421377-chr20:14423386..14425403,2	MCF-7	breast:
2	chr20:14419711..14421377-chr20:14423386..14425403,2	MCF-7	breast:
3	chr20:14392722..14394222-chr20:14395947..14398400,2	MCF-7	breast:
4	chr20:14392722..14394222-chr20:14395947..14398400,2	MCF-7	breast:

Extended variants
information (count: 2439 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:2439 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6110271	chr20:14374573-14374574	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs550131393	chr20:14374581-14374582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs550309556	chr20:14374585-14374586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs145209716	chr20:14374615-14374616	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs578173706	chr20:14374618-14374619	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs563764512	chr20:14374623-14374624	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552400830	chr20:14374635-14374636	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs192525400	chr20:14374717-14374718	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs534869135	chr20:14374746-14374747	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs555052020	chr20:14374747-14374748	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs529350623	chr20:14374769-14374770	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs114999271	chr20:14374809-14374810	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs77317070	chr20:14374839-14374840	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs185553962	chr20:14374883-14374884	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs577236556	chr20:14374892-14374893	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs549375453	chr20:14374894-14374895	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs190080459	chr20:14374908-14374909	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs546113398	chr20:14374924-14374925	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs541665708	chr20:14374956-14374957	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs193182699	chr20:14374994-14374995	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573003463	chr20:14375006-14375007	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs185110285	chr20:14375013-14375014	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs188717467	chr20:14375018-14375019	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs566394096	chr20:14375093-14375094	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs561841027	chr20:14375099-14375100	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201076583	chr20:14375134-14375135	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs34361986	chr20:14375149-14375150	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs530507479	chr20:14375168-14375169	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs6110272	chr20:14375197-14375198	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs552022528	chr20:14375204-14375205	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563736265	chr20:14375208-14375209	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs181199828	chr20:14375254-14375255	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571750750	chr20:14375267-14375268	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs537610229	chr20:14375275-14375276	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs78572678	chr20:14375283-14375284	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs566198517	chr20:14375287-14375288	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs149130797	chr20:14375311-14375312	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs548462162	chr20:14375334-14375335	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs573380455	chr20:14375337-14375338	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs568600596	chr20:14375417-14375418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs537518039	chr20:14375425-14375426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs535017056	chr20:14375465-14375466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs557436324	chr20:14375494-14375495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs114601544	chr20:14375546-14375547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs143298044	chr20:14375548-14375549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs185098035	chr20:14375566-14375567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs148314566	chr20:14375576-14375577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs539848815	chr20:14375588-14375589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs542021442	chr20:14375591-14375592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs555251858	chr20:14375611-14375612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:378 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:14365400-14387000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr20:14369200-14377200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr20:14374600-14375400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr20:14375600-14376400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr20:14376400-14377200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr20:14376600-14376800	Enhancers	Fetal Heart	heart
7	chr20:14380800-14382200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr20:14381000-14384000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr20:14381200-14381400	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr20:14381200-14384200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr20:14381400-14381600	Enhancers	Brain Germinal Matrix	brain
12	chr20:14381400-14382600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr20:14381600-14382400	Weak transcription	Brain Germinal Matrix	brain
14	chr20:14381600-14383600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr20:14381800-14382000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
16	chr20:14382000-14383200	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr20:14382000-14384000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
18	chr20:14382200-14382400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr20:14382200-14382400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr20:14382400-14382600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr20:14382400-14382600	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr20:14382400-14382600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
23	chr20:14382400-14383400	Enhancers	Brain Germinal Matrix	brain
24	chr20:14382400-14386800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr20:14382600-14383200	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr20:14382600-14383200	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr20:14382600-14383200	Enhancers	HSMM	muscle
28	chr20:14382600-14387600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr20:14383000-14383600	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr20:14383200-14383400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr20:14383200-14383600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
32	chr20:14383200-14383600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr20:14383200-14387000	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr20:14383200-14387600	Weak transcription	HSMM	muscle
35	chr20:14383800-14384000	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr20:14384000-14385000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr20:14384200-14384600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr20:14384600-14385400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr20:14385000-14386400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr20:14385200-14385400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr20:14386000-14386800	Enhancers	A549	lung
42	chr20:14386200-14388200	Enhancers	NHEK	skin
43	chr20:14386400-14386800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr20:14386600-14390000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr20:14386800-14387000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr20:14386800-14387200	Flanking Active TSS	A549	lung
47	chr20:14386800-14387800	Enhancers	Hela-S3	cervix
48	chr20:14386800-14388200	Enhancers	Muscle Satellite Cultured Cells	--
49	chr20:14386800-14390000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr20:14387000-14387200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links