Variant report

Variant	nsv597743
Chromosome Location	chr5:28815962-28877116
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:28848991..28851784-chr5:28856691..28858212,2	K562	blood:
2	chr5:28816134..28818756-chr5:28819776..28822041,3	K562	blood:
3	chr5:28826049..28828145-chr5:28828270..28829851,2	K562	blood:
4	chr5:28811938..28814493-chr5:28819966..28823203,3	K562	blood:
5	chr5:28806282..28808048-chr5:28853726..28856182,2	K562	blood:
6	chr5:28826049..28828145-chr5:28828270..28829851,2	K562	blood:
7	chr5:28836092..28838497-chr5:28839805..28842751,2	MCF-7	breast:
8	chr5:28836092..28838497-chr5:28839805..28842751,2	MCF-7	breast:
9	chr5:28851055..28851753-chr7:86185395..86186230,2	MCF-7	breast:
10	chr5:28848991..28851784-chr5:28856691..28858212,2	K562	blood:
11	chr5:28827388..28830378-chr5:28832041..28834686,2	K562	blood:
12	chr5:28827388..28830378-chr5:28832041..28834686,2	K562	blood:
13	chr5:28823907..28826639-chr5:28834141..28835828,2	K562	blood:
14	chr5:28808032..28811102-chr5:28813971..28817710,5	K562	blood:
15	chr5:28816134..28818756-chr5:28819776..28822041,3	K562	blood:
16	chr5:28823907..28826639-chr5:28834141..28835828,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000250453	chromatin interactions
ENSG00000270495	chromatin interactions

Extended variants
information (count: 376 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:376 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16898178	chr5:28815962-28815963	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs572612669	chr5:28815969-28815970	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs559473575	chr5:28815971-28815972	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs189723359	chr5:28816077-28816078	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs73749818	chr5:28816090-28816091	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs563410495	chr5:28816098-28816099	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs16898181	chr5:28816108-28816109	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs181326335	chr5:28816109-28816110	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs565293936	chr5:28816128-28816129	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs76907973	chr5:28816168-28816169	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs186014474	chr5:28816177-28816178	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs559274916	chr5:28816208-28816209	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs199633075	chr5:28816309-28816310	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs530386623	chr5:28816322-28816323	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs548168341	chr5:28816359-28816360	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs569969243	chr5:28816363-28816364	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs530731231	chr5:28816404-28816405	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs551729259	chr5:28816408-28816409	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs570119528	chr5:28816424-28816425	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs147948939	chr5:28816499-28816500	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs553069748	chr5:28816542-28816543	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs565383596	chr5:28816550-28816551	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs536876482	chr5:28816575-28816576	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs554947260	chr5:28816604-28816605	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs141766390	chr5:28816630-28816631	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs141374189	chr5:28816694-28816695	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs113287718	chr5:28816695-28816696	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs544147695	chr5:28816726-28816727	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs558945878	chr5:28816732-28816733	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs577318725	chr5:28816745-28816746	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs541164665	chr5:28816751-28816752	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs558952077	chr5:28816758-28816759	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs189954761	chr5:28816800-28816801	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs529835772	chr5:28816833-28816834	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs542711496	chr5:28816863-28816864	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs541974420	chr5:28816870-28816871	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs563166602	chr5:28816893-28816894	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs578003020	chr5:28816902-28816903	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs530672343	chr5:28816938-28816939	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs35165783	chr5:28816987-28816988	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs540507300	chr5:28817065-28817066	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs147077229	chr5:28817102-28817103	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs16898182	chr5:28817115-28817116	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs528120362	chr5:28817122-28817123	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs111269893	chr5:28817139-28817140	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs550986483	chr5:28817146-28817147	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs188894277	chr5:28817159-28817160	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs568180022	chr5:28817178-28817179	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs535210780	chr5:28817220-28817221	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs555115709	chr5:28817230-28817231	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	20864512	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Multiple myeloma	17550852	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Breast cancer	21858162	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18194544	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Non-small cell lung cancer	19010865	CNVD
Glioblastoma multiforme	22286061	CNVD
Compulsive disorder	18923513	CNVD
Epilepsy	18923513	CNVD
Prader-willi syndrome	18923513	CNVD
small cell lung cancer	20016488	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:28813200-28816600	Weak transcription	K562	blood
2	chr5:28822200-28822800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr5:28823200-28823800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr5:28825600-28827000	Enhancers	Fetal Heart	heart
5	chr5:28857600-28859800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr5:28859800-28860000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:28860000-28861600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:28861400-28862600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr5:28861600-28862000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:28862000-28862400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:28862200-28863000	Enhancers	HepG2	liver
12	chr5:28862400-28863600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr5:28863600-28864200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr5:28876800-28877400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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