Variant report

Variant	nsv965552
Chromosome Location	chr5:79680761-79686085
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:79680632..79682689-chr5:79702556..79705335,2	MCF-7	breast:
2	chr5:79686081..79688375-chr5:79722309..79724181,2	K562	blood:
3	chr5:79678523..79680682-chr5:79681436..79683357,3	K562	blood:
4	chr5:79682453..79684405-chr5:79695952..79698525,2	MCF-7	breast:
5	chr5:79684949..79686674-chr5:79697714..79700517,2	K562	blood:
6	chr5:79678523..79681418-chr5:79681436..79685072,4	K562	blood:
7	chr5:79678523..79681418-chr5:79681436..79685072,4	K562	blood:

Variant related genes	Relation type
ENSG00000039319	chromatin interactions

Extended variants
information (count: 227 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:227 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs58831173	chr5:79680816-79680817	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs372243856	chr5:79680830-79680831	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs554699007	chr5:79680874-79680875	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs190791886	chr5:79680890-79680891	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs201505182	chr5:79680927-79680928	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs540965825	chr5:79680937-79680938	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs532584907	chr5:79680953-79680954	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs374261375	chr5:79680955-79680956	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs60938012	chr5:79680956-79680957	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs201761473	chr5:79680957-79680958	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs200196732	chr5:79680958-79680959	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs563174863	chr5:79680963-79680964	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs375293931	chr5:79680978-79680979	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs4704667	chr5:79680984-79680985	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs60107833	chr5:79680986-79680987	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs61374424	chr5:79680992-79680993	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs182151634	chr5:79680995-79680996	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs78690033	chr5:79681007-79681008	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs533775879	chr5:79681024-79681025	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs201179425	chr5:79681055-79681056	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs577194675	chr5:79681083-79681084	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs546202540	chr5:79681188-79681189	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs187630366	chr5:79681291-79681292	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs531810478	chr5:79681305-79681306	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs139976726	chr5:79681340-79681341	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs561880668	chr5:79681355-79681356	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs527485682	chr5:79681358-79681359	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs577092282	chr5:79681364-79681365	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs547698432	chr5:79681380-79681381	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs191557607	chr5:79681394-79681395	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs570640475	chr5:79681398-79681399	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs539062735	chr5:79681415-79681416	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs183774407	chr5:79681461-79681462	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs58901908	chr5:79681462-79681463	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs59107533	chr5:79681465-79681466	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs56838084	chr5:79681472-79681473	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs575027089	chr5:79681473-79681474	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs6882726	chr5:79681489-79681490	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs560705545	chr5:79681525-79681526	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs541958129	chr5:79681526-79681527	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs577428666	chr5:79681552-79681553	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs6882754	chr5:79681557-79681558	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs377069180	chr5:79681571-79681572	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs527379946	chr5:79681581-79681582	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs187911256	chr5:79681582-79681583	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs71601584	chr5:79681598-79681599	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs369237071	chr5:79681599-79681600	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs55790691	chr5:79681608-79681609	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs6862089	chr5:79681609-79681610	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs76657018	chr5:79681617-79681618	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	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
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	22032731	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Prostate cancer	21965145	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	21251322	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Myelofibrosis	22110671	CNVD
craniofacial dysmorphism	21918468	CNVD
lymphocytic leukemia	21291569	CNVD
Lung cancer	16773561	CNVD
Multiple myeloma	16616336	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Schizophrenia	20967226	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79681200-79685400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:79683400-79683600	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr5:79683800-79685000	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr5:79684800-79685000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr5:79684800-79685000	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr5:79684800-79685200	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr5:79685000-79685200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr5:79685000-79685200	Enhancers	Brain Hippocampus Middle	brain
9	chr5:79685000-79685400	Active TSS	Primary hematopoietic stem cells	blood
10	chr5:79685000-79685600	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr5:79685000-79685600	Active TSS	Rectal Mucosa Donor 29	rectum
12	chr5:79685000-79685800	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr5:79685000-79685800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr5:79685000-79685800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr5:79685200-79685400	Enhancers	H9 Cell Line	embryonic stem cell
16	chr5:79685200-79685600	Active TSS	Primary B cells from cord blood	blood
17	chr5:79685200-79685600	Enhancers	Primary B cells from peripheral blood	blood
18	chr5:79685200-79685600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr5:79685200-79685600	Active TSS	Brain Hippocampus Middle	brain
20	chr5:79685200-79685800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
21	chr5:79685400-79685600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr5:79685400-79685600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
23	chr5:79685400-79685600	Flanking Bivalent TSS/Enh	HepG2	liver
24	chr5:79685400-79685800	Enhancers	H1 Cell Line	embryonic stem cell
25	chr5:79685400-79685800	Flanking Active TSS	Primary hematopoietic stem cells	blood
26	chr5:79685400-79686400	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr5:79685400-79686800	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr5:79685600-79685800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr5:79685600-79685800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr5:79685800-79686000	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr5:79685800-79686200	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr5:79686000-79686600	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr5:79686000-79686800	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr5:79686000-79686800	Enhancers	HUES6 Cell Line	embryonic stem cell

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