Variant report

Variant	nsv1063787
Chromosome Location	chr20:14341199-14408090
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:14349761..14351392-chr20:14353398..14355373,2	K562	blood:
2	chr20:14392722..14394222-chr20:14395947..14398400,2	MCF-7	breast:
3	chr20:14349761..14351392-chr20:14353398..14355373,2	K562	blood:
4	chr20:14392722..14394222-chr20:14395947..14398400,2	MCF-7	breast:

Extended variants
information (count: 2117 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:2117 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6074719	chr20:14341199-14341200	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs189232033	chr20:14341214-14341215	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs138032568	chr20:14341228-14341229	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs548965812	chr20:14341275-14341276	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs371769687	chr20:14341313-14341314	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs6074720	chr20:14341331-14341332	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs149122940	chr20:14341355-14341356	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs368717639	chr20:14341386-14341387	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs6042692	chr20:14341391-14341392	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs571024901	chr20:14341458-14341459	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs563086927	chr20:14341459-14341460	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs62207609	chr20:14341492-14341493	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs532011791	chr20:14341531-14341532	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs533614569	chr20:14341535-14341536	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs6079399	chr20:14341543-14341544	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs570372434	chr20:14341576-14341577	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs6074721	chr20:14341579-14341580	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs567107821	chr20:14341634-14341635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs6110260	chr20:14341677-14341678	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs6074722	chr20:14341680-14341681	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs116405860	chr20:14341689-14341690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs538428227	chr20:14341728-14341729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs146120101	chr20:14341736-14341737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs578161026	chr20:14341818-14341819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs6135127	chr20:14341832-14341833	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs560492869	chr20:14341930-14341931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs73901237	chr20:14341955-14341956	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs570524070	chr20:14341959-14341960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs542955056	chr20:14341968-14341969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs562619766	chr20:14341975-14341976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs180758905	chr20:14341986-14341987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs138684161	chr20:14341987-14341988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs370401615	chr20:14342046-14342047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs373816747	chr20:14342067-14342068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs373918619	chr20:14342149-14342150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs564690822	chr20:14342150-14342151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs527393566	chr20:14342172-14342173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs377641373	chr20:14342207-14342208	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549746509	chr20:14342208-14342209	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs547077685	chr20:14342230-14342231	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs567298806	chr20:14342270-14342271	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs717327	chr20:14342271-14342272	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs549683259	chr20:14342283-14342284	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs34708296	chr20:14342356-14342357	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs185897079	chr20:14342370-14342371	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs190802782	chr20:14342371-14342372	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs535724618	chr20:14342427-14342428	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs181916796	chr20:14342445-14342446	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs186108178	chr20:14342475-14342476	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs190489669	chr20:14342478-14342479	Enhancers Flanking Active TSS	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	18451855	CNVD

Chromatin state (count:297 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:14339800-14341600	Weak transcription	Liver	Liver
2	chr20:14341000-14341400	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr20:14341000-14341400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr20:14341000-14341400	Enhancers	NHEK	skin
5	chr20:14341000-14341600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr20:14341000-14341800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr20:14341000-14342600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr20:14341200-14341800	Enhancers	HSMMtube	muscle
9	chr20:14341200-14343200	Enhancers	Duodenum Mucosa	Duodenum
10	chr20:14341600-14342000	Enhancers	Fetal Intestine Small	intestine
11	chr20:14341600-14342200	Enhancers	Liver	Liver
12	chr20:14341800-14342200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr20:14342000-14342400	Weak transcription	Fetal Intestine Small	intestine
14	chr20:14342000-14343200	Enhancers	Hela-S3	cervix
15	chr20:14342200-14342800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr20:14342200-14343000	Flanking Active TSS	Liver	Liver
17	chr20:14342200-14343400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr20:14342400-14342600	Enhancers	Fetal Intestine Small	intestine
19	chr20:14342600-14343000	Weak transcription	Fetal Intestine Small	intestine
20	chr20:14343000-14343200	Enhancers	Liver	Liver
21	chr20:14343000-14343400	ZNF genes & repeats	Fetal Intestine Small	intestine
22	chr20:14344000-14344600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr20:14344600-14346400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr20:14349600-14349800	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr20:14349800-14350000	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr20:14349800-14350000	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr20:14350000-14351000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr20:14350000-14351000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr20:14350000-14351200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr20:14350000-14351600	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr20:14350200-14352200	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr20:14350800-14351600	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr20:14351000-14351400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr20:14351000-14351600	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr20:14351000-14351600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr20:14351000-14351600	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr20:14351000-14352000	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr20:14351200-14351600	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr20:14351400-14353400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr20:14351600-14354200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr20:14351600-14355200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr20:14351600-14356000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr20:14351600-14356200	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr20:14351600-14359000	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr20:14352000-14356400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr20:14352200-14354800	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr20:14353200-14357000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr20:14353200-14357200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr20:14353400-14353600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr20:14353400-14359400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links