Variant report

Variant	nsv4772
Chromosome Location	chr5:28512797-28529937
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	chr5:28374945..28377602-chr5:28528241..28531132,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CDH6-18	chr5:28524293-28524641	NONHSAT100815
2	lnc-CDH6-18	chr5:28524293-28524641	FPKM1_group_25126_transcript_1

Extended variants
information (count: 439 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:439 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563356576	chr5:28512851-28512852	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs139985127	chr5:28512950-28512951	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs371229044	chr5:28512955-28512956	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs10472637	chr5:28512970-28512971	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs578047373	chr5:28512995-28512996	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs528720759	chr5:28513092-28513093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs190607518	chr5:28513114-28513115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs568516244	chr5:28513148-28513149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs535556161	chr5:28513162-28513163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs377352692	chr5:28513171-28513172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs537108297	chr5:28513201-28513202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs112228936	chr5:28513216-28513217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs10472638	chr5:28513267-28513268	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs539422987	chr5:28513276-28513277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs142210560	chr5:28513337-28513338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs538657232	chr5:28513340-28513341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs547378790	chr5:28513349-28513350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs376989680	chr5:28513360-28513361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs10472639	chr5:28513392-28513393	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs79632567	chr5:28513477-28513478	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs193151982	chr5:28513516-28513517	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs151206341	chr5:28513522-28513523	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs34896180	chr5:28513574-28513575	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558561788	chr5:28513660-28513661	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs571989316	chr5:28513673-28513674	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs541941030	chr5:28513709-28513710	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs563421668	chr5:28513788-28513789	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs575271417	chr5:28513798-28513799	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs370939697	chr5:28513834-28513835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs185208996	chr5:28513845-28513846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs564673947	chr5:28513847-28513848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs572777003	chr5:28513864-28513865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs541021195	chr5:28513869-28513870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs189841338	chr5:28513888-28513889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs546940928	chr5:28513896-28513897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs140293055	chr5:28513944-28513945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs115726524	chr5:28513994-28513995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs10472130	chr5:28514064-28514065	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs568962974	chr5:28514071-28514072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs539483601	chr5:28514109-28514110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs149799058	chr5:28514139-28514140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs566302606	chr5:28514147-28514148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs574978211	chr5:28514148-28514149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs534110229	chr5:28514172-28514173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs147892274	chr5:28514221-28514222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs573527065	chr5:28514279-28514280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs563493821	chr5:28514280-28514281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs7443304	chr5:28514319-28514320	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs181600674	chr5:28514337-28514338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs575332174	chr5:28514490-28514491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
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
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	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:28512600-28513400	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr5:28512800-28513000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:28513000-28513200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr5:28513000-28513800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:28513400-28513800	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr5:28513800-28514000	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr5:28513800-28516600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:28514000-28517400	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr5:28516200-28517800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr5:28516600-28517400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:28516800-28517400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:28516800-28517400	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr5:28516800-28518000	Enhancers	NH-A	brain
14	chr5:28517000-28517400	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr5:28517200-28517800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr5:28517200-28518200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr5:28517400-28518000	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr5:28517400-28523800	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr5:28517600-28518200	Enhancers	Hela-S3	cervix
20	chr5:28517800-28518200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr5:28517800-28518200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr5:28518200-28523000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr5:28518200-28523600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr5:28523000-28523400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr5:28523400-28523600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr5:28523600-28524000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr5:28523600-28525000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr5:28523600-28525400	Enhancers	NH-A	brain
29	chr5:28523800-28524600	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr5:28523800-28524600	Enhancers	Fetal Kidney	kidney
31	chr5:28523800-28524800	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr5:28523800-28524800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr5:28523800-28525000	Enhancers	HUVEC	blood vessel
34	chr5:28524000-28524200	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr5:28524000-28524600	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr5:28524000-28524600	Enhancers	Hela-S3	cervix
37	chr5:28524000-28525000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr5:28524200-28524600	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr5:28524200-28524600	Enhancers	HUES64 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links