Variant report

Variant	nsv880314
Chromosome Location	chr5:41271606-41298726
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:13)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:41273834..41276644-chr5:41278086..41281406,3	K562	blood:
2	chr5:41246537..41249382-chr5:41272514..41274880,2	K562	blood:
3	chr5:41274891..41276632-chr5:41280003..41282634,2	MCF-7	breast:
4	chr5:41281876..41284004-chr5:41284235..41287171,2	K562	blood:
5	chr5:41273834..41276644-chr5:41278086..41281406,3	K562	blood:
6	chr5:41277349..41279577-chr5:41326459..41329011,2	K562	blood:
7	chr5:41273834..41276644-chr5:41277788..41281406,3	K562	blood:
8	chr5:41274891..41276632-chr5:41280003..41282634,2	MCF-7	breast:
9	chr5:41284176..41286703-chr5:41413891..41416832,2	MCF-7	breast:
10	chr5:41273834..41276644-chr5:41277788..41281406,3	K562	blood:
11	chr5:41271010..41273046-chr5:41276725..41279663,2	K562	blood:
12	chr5:41271010..41273046-chr5:41276725..41279663,2	K562	blood:
13	chr5:41281876..41284004-chr5:41284235..41287171,2	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PLCXD3-1	chr5:41284867-41285075	XLOC_004799
2	lnc-PLCXD3-1	chr5:41284867-41285075	XLOC_004799
3	lnc-PLCXD3-1	chr5:41293778-41295239	XLOC_004799
4	lnc-PLCXD3-1	chr5:41293250-41293552	XLOC_004799

No data

Extended variants
information (count: 963 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:963 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6867632	chr5:41271606-41271607	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs542832435	chr5:41271661-41271662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs550885135	chr5:41271675-41271676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs189197060	chr5:41271681-41271682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs554386086	chr5:41271706-41271707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs371914806	chr5:41271721-41271722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs35327441	chr5:41271823-41271824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs569046509	chr5:41271851-41271852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs536498619	chr5:41271918-41271919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs16871137	chr5:41271985-41271986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs146806773	chr5:41271995-41271996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs535084251	chr5:41272008-41272009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs553113277	chr5:41272028-41272029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs577990829	chr5:41272063-41272064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs536649301	chr5:41272073-41272074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs557684848	chr5:41272182-41272183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs575804019	chr5:41272210-41272211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs542825381	chr5:41272211-41272212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs554709371	chr5:41272214-41272215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs572625931	chr5:41272245-41272246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs539969181	chr5:41272253-41272254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs556867007	chr5:41272280-41272281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs532173121	chr5:41272321-41272322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs192210057	chr5:41272361-41272362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs184531794	chr5:41272368-41272369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs189407930	chr5:41272375-41272376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs548417899	chr5:41272425-41272426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs6872999	chr5:41272451-41272452	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs565171558	chr5:41272476-41272477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs181285754	chr5:41272492-41272493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs72755931	chr5:41272507-41272508	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs571649893	chr5:41272536-41272537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs539028314	chr5:41272657-41272658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs184329430	chr5:41272677-41272678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs189022816	chr5:41272684-41272685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs34417603	chr5:41272696-41272697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs181701745	chr5:41272713-41272714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs2962291	chr5:41272728-41272729	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs530169734	chr5:41272733-41272734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573135752	chr5:41272741-41272742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs140601053	chr5:41272778-41272779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs558664165	chr5:41272779-41272780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs374870840	chr5:41272815-41272816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs576817197	chr5:41272832-41272833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs544203822	chr5:41272852-41272853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs144343505	chr5:41272943-41272944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530035737	chr5:41272950-41272951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs146603990	chr5:41272992-41272993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs560461278	chr5:41273006-41273007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs79622033	chr5:41273011-41273012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

Disease	PMID	Source
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
Medulloblastoma	21979893	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
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	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
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Non-small cell lung cancer	19010865	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	22286061	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	19553991	CNVD
Lung cancer	19553991	CNVD
Melanoma	19553991	CNVD
Ovarian cancer	19553991	CNVD
Prostate cancer	19553991	CNVD
Non-small cell lung cancer	17156491	CNVD
Breast cancer	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Hepatocellular carcinoma	18929564	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:41269400-41272600	Enhancers	Fetal Heart	heart
2	chr5:41271000-41274600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr5:41271200-41272600	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr5:41272600-41277600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr5:41274600-41274800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr5:41274800-41275200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr5:41275200-41276600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr5:41275400-41276000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr5:41275600-41276800	Enhancers	GM12878-XiMat	blood
10	chr5:41276800-41278000	Weak transcription	GM12878-XiMat	blood
11	chr5:41277600-41278000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:41277600-41278800	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr5:41278000-41278600	Enhancers	Brain Substantia Nigra	brain
14	chr5:41278000-41278600	Enhancers	GM12878-XiMat	blood
15	chr5:41278600-41281200	Weak transcription	GM12878-XiMat	blood
16	chr5:41278800-41279200	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr5:41279200-41279400	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr5:41279400-41281200	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr5:41281000-41281200	Enhancers	Rectal Mucosa Donor 29	rectum
20	chr5:41281200-41281400	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr5:41281200-41281400	Flanking Active TSS	GM12878-XiMat	blood
22	chr5:41281200-41281600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr5:41281200-41281600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
24	chr5:41281200-41281600	Active TSS	Rectal Mucosa Donor 31	rectum
25	chr5:41281400-41281800	Active TSS	Duodenum Mucosa	Duodenum
26	chr5:41281400-41281800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
27	chr5:41281400-41282200	Active TSS	GM12878-XiMat	blood
28	chr5:41281800-41282000	Flanking Active TSS	Duodenum Mucosa	Duodenum
29	chr5:41281800-41282000	Bivalent Enhancer	Hela-S3	cervix
30	chr5:41281800-41282600	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr5:41282000-41285800	Weak transcription	Duodenum Mucosa	Duodenum
32	chr5:41282600-41283600	Enhancers	Pancreatic Islets	Pancreatic Islet
33	chr5:41283400-41283600	Enhancers	H9 Cell Line	embryonic stem cell
34	chr5:41283400-41283600	Enhancers	Fetal Heart	heart
35	chr5:41283400-41284000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr5:41283400-41284200	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr5:41283400-41286200	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr5:41283400-41286200	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr5:41283600-41283800	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr5:41283600-41285800	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr5:41283600-41285800	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr5:41283600-41286200	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr5:41283800-41285400	Weak transcription	Fetal Heart	heart
44	chr5:41283800-41285600	Enhancers	H1 Cell Line	embryonic stem cell
45	chr5:41284000-41285800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr5:41284200-41284600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr5:41284600-41286200	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr5:41285200-41286200	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr5:41285400-41286200	Enhancers	H9 Cell Line	embryonic stem cell
50	chr5:41285400-41286200	Enhancers	HUES6 Cell Line	embryonic stem cell

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