Variant report

Variant	nsv882225
Chromosome Location	chr5:79342519-79353428
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:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:79348642..79351231-chr5:79351742..79353321,2	MCF-7	breast:
2	chr5:79350174..79351742-chr5:79371407..79373227,2	MCF-7	breast:
3	chr5:79348642..79351231-chr5:79351742..79353321,2	MCF-7	breast:
4	chr5:79342559..79344595-chr5:79353378..79355370,2	MCF-7	breast:
5	chr5:79335840..79338759-chr5:79340815..79343092,2	K562	blood:
6	chr5:79341846..79342632-chr5:79379301..79379935,2	K562	blood:
7	chr5:79342559..79344595-chr5:79353378..79355370,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SERINC5-1	chr5:79348197-79348724	ENSG00000249825.1

No data

Variant related genes	Relation type
ENSG00000249825	chromatin interactions

Extended variants
information (count: 349 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:349 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs256440	chr5:79342519-79342520	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs541508291	chr5:79342526-79342527	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs564584569	chr5:79342535-79342536	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs143139861	chr5:79342536-79342537	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs369029670	chr5:79342544-79342545	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs60662137	chr5:79342550-79342551	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs543227354	chr5:79342554-79342555	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs200550692	chr5:79342571-79342572	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs563543048	chr5:79342616-79342617	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs151180927	chr5:79342679-79342680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs79731163	chr5:79342689-79342690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs73770697	chr5:79342820-79342821	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs557936625	chr5:79342847-79342848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs528099946	chr5:79342878-79342879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs17886383	chr5:79342896-79342897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs150247455	chr5:79342910-79342911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs145788674	chr5:79342921-79342922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs181255232	chr5:79342958-79342959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs367951130	chr5:79342993-79342994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs550104314	chr5:79342997-79342998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs185800507	chr5:79343011-79343012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs141879824	chr5:79343030-79343031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs189727620	chr5:79343078-79343079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs556116519	chr5:79343092-79343093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs566044294	chr5:79343134-79343135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs371566415	chr5:79343289-79343290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs534998202	chr5:79343348-79343349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs558209320	chr5:79343360-79343361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs573750514	chr5:79343362-79343363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs147105057	chr5:79343366-79343367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs34179843	chr5:79343455-79343456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs70982017	chr5:79343457-79343458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs13171081	chr5:79343458-79343459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs556841041	chr5:79343459-79343460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs573784559	chr5:79343461-79343462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs80072006	chr5:79343473-79343474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs113173064	chr5:79343515-79343516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs559238928	chr5:79343518-79343519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182342041	chr5:79343520-79343521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs544583704	chr5:79343560-79343561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs564585520	chr5:79343576-79343577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs376617417	chr5:79343595-79343596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs564341807	chr5:79343634-79343635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs143863994	chr5:79343757-79343758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs550653943	chr5:79343801-79343802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs690325	chr5:79343802-79343803	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs529504431	chr5:79343941-79343942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs57511319	chr5:79343945-79343946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs72772300	chr5:79344129-79344130	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs187004736	chr5:79344169-79344170	Weak transcription Enhancers	n/a	n/a	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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79332800-79350200	Weak transcription	Fetal Muscle Trunk	muscle
2	chr5:79338200-79363600	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr5:79338200-79367600	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr5:79338400-79355200	Weak transcription	Brain Anterior Caudate	brain
5	chr5:79339200-79354600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr5:79340000-79363400	Weak transcription	Left Ventricle	heart
7	chr5:79344000-79344800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr5:79344200-79355200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr5:79345200-79364200	Weak transcription	Right Ventricle	heart
10	chr5:79345800-79346000	Bivalent/Poised TSS	Hela-S3	cervix
11	chr5:79347200-79351200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr5:79347800-79355600	Weak transcription	Brain Hippocampus Middle	brain
13	chr5:79348200-79366400	Weak transcription	Brain Substantia Nigra	brain
14	chr5:79350400-79350800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr5:79350600-79351400	Enhancers	HMEC	breast
16	chr5:79350600-79351600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr5:79350600-79363200	Weak transcription	Psoas Muscle	Psoas
18	chr5:79350800-79351000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr5:79351000-79351400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr5:79351000-79352000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr5:79351000-79352400	Enhancers	NHEK	skin
22	chr5:79351200-79351400	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr5:79351200-79351800	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr5:79351200-79352000	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr5:79351200-79352000	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr5:79351200-79352000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr5:79351200-79352200	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr5:79351400-79351600	Enhancers	Pancreas	Pancrea
29	chr5:79351400-79351800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr5:79351400-79351800	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr5:79351400-79351800	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr5:79351400-79351800	Flanking Active TSS	HMEC	breast
33	chr5:79351400-79352000	Enhancers	H1 Cell Line	embryonic stem cell
34	chr5:79351400-79352000	Enhancers	H9 Cell Line	embryonic stem cell
35	chr5:79351400-79352000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr5:79351400-79352000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr5:79351400-79352000	Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr5:79351400-79352000	Enhancers	GM12878-XiMat	blood
39	chr5:79351400-79352200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
40	chr5:79351400-79352200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr5:79351600-79352000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr5:79351600-79352200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr5:79351600-79352400	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr5:79351600-79352600	Enhancers	Fetal Heart	heart
45	chr5:79351600-79379200	Weak transcription	Pancreas	Pancrea
46	chr5:79351800-79352400	Enhancers	HMEC	breast
47	chr5:79351800-79361800	Weak transcription	Primary T cells from cord blood	blood
48	chr5:79352000-79355600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr5:79352000-79361200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr5:79352000-79365200	Weak transcription	H9 Cell Line	embryonic stem cell

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