Variant report

Variant	nsv904222
Chromosome Location	chr15:53316487-53384700
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:17)
LncRNA
region (count:9)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:53314666..53317363-chr15:53317996..53319589,2	MCF-7	breast:
2	chr15:53364212..53364797-chr15:53623796..53624629,2	MCF-7	breast:
3	chr15:53363971..53364789-chr15:53374593..53375688,3	MCF-7	breast:
4	chr15:53318089..53321018-chr15:53355252..53357036,2	MCF-7	breast:
5	chr15:53318089..53321018-chr15:53355252..53357036,2	MCF-7	breast:
6	chr15:53367799..53369631-chr15:53373514..53375161,2	MCF-7	breast:
7	chr15:53364183..53365120-chr15:53374984..53375519,2	MCF-7	breast:
8	chr15:53369383..53371838-chr15:53381998..53383881,2	K562	blood:
9	chr15:53364183..53365120-chr15:53374984..53375519,2	MCF-7	breast:
10	chr1:147063109..147063671-chr15:53336684..53337320,2	MCF-7	breast:
11	chr15:53363971..53364789-chr15:53374593..53375688,3	MCF-7	breast:
12	chr15:53146326..53147158-chr15:53363981..53364531,2	MCF-7	breast:
13	chr15:53367799..53369631-chr15:53373514..53375161,2	MCF-7	breast:
14	chr15:53369383..53371838-chr15:53381998..53383881,2	K562	blood:
15	chr15:53364390..53366274-chr15:53368340..53370470,3	MCF-7	breast:
16	chr15:53364390..53366274-chr15:53368340..53370470,3	MCF-7	breast:
17	chr15:53314666..53317363-chr15:53317996..53319589,2	MCF-7	breast:

(count:9 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ONECUT1-3	chr15:53344936-53345174	NONHSAT043959
2	lnc-UNC13C-6	chr15:53362262-53362447	NONHSAT043960
3	lnc-UNC13C-2	chr15:53375073-53375267	XLOC_011259
4	lnc-UNC13C-6	chr15:53360686-53360774	NONHSAT043960
5	lnc-UNC13C-7	chr15:53334546-53335833	NONHSAT043958
6	lnc-ONECUT1-3	chr15:53346270-53346297	NONHSAT043959
7	lnc-UNC13C-2	chr15:53375035-53375267	NONHSAT043961
8	lnc-ONECUT1-3	chr15:53343151-53343209	NONHSAT043959
9	lnc-UNC13C-2	chr15:53375036-53375267	XLOC_011259

No data

Variant related genes	Relation type
SMG1	miRNA target sites
DMTF1	miRNA target sites

Extended variants
information (count: 1325 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:1325 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs80167696	chr15:53321805-53321806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs113607261	chr15:53321817-53321818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs567979898	chr15:53321824-53321825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs116566895	chr15:53321826-53321827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs2639679	chr15:53321829-53321830	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs373509757	chr15:53321921-53321922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs188258373	chr15:53321924-53321925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs146382787	chr15:53321933-53321934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs138418732	chr15:53322013-53322014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs192988110	chr15:53322056-53322057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs554737246	chr15:53322069-53322070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs143008317	chr15:53322102-53322103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs2639680	chr15:53322132-53322133	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs2651512	chr15:53322148-53322149	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs73400102	chr15:53322165-53322166	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs546153282	chr15:53322182-53322183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs553111224	chr15:53322220-53322221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs573223979	chr15:53322271-53322272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs185290255	chr15:53322275-53322276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs559093143	chr15:53322285-53322286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs187270944	chr15:53322311-53322312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs375607981	chr15:53322357-53322358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs531000623	chr15:53322401-53322402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs116309454	chr15:53322430-53322431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs564753190	chr15:53322439-53322440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs533479164	chr15:53322485-53322486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs368605049	chr15:53322493-53322494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs139802592	chr15:53322505-53322506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs565521604	chr15:53322532-53322533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs192551086	chr15:53322566-53322567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs72744062	chr15:53322590-53322591	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs116869596	chr15:53322625-53322626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs115644873	chr15:53322692-53322693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs557216487	chr15:53322720-53322721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs570694002	chr15:53322738-53322739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs60117573	chr15:53322784-53322785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs553259901	chr15:53322814-53322815	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs8026698	chr15:53322833-53322834	Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs142036929	chr15:53322899-53322900	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs370283996	chr15:53322900-53322901	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs184636872	chr15:53322901-53322902	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs2639681	chr15:53322946-53322947	Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs575336380	chr15:53322950-53322951	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs2639682	chr15:53322992-53322993	Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs564540321	chr15:53323028-53323029	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs533605751	chr15:53323041-53323042	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs201407207	chr15:53323088-53323089	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs540545578	chr15:53323107-53323108	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs560885907	chr15:53323135-53323136	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs551980158	chr15:53323179-53323180	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Testicular germ cell tumor	18059402	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16774939	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	22032731	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Cancer	21129771	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Acute monocytic leukemia	16498392	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Melanoma	21949216	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:53321800-53322800	Enhancers	Liver	Liver
2	chr15:53322800-53323400	Flanking Active TSS	Liver	Liver
3	chr15:53322800-53326400	Enhancers	HepG2	liver
4	chr15:53323400-53326200	Enhancers	Liver	Liver
5	chr15:53326200-53326400	Flanking Active TSS	Liver	Liver
6	chr15:53326400-53326600	Enhancers	Liver	Liver
7	chr15:53326400-53327000	Flanking Active TSS	HepG2	liver
8	chr15:53326600-53326800	Flanking Active TSS	Liver	Liver
9	chr15:53326800-53327800	Enhancers	Liver	Liver
10	chr15:53327000-53327200	Enhancers	HepG2	liver
11	chr15:53327200-53327400	Flanking Active TSS	HepG2	liver
12	chr15:53327400-53328400	Enhancers	HepG2	liver
13	chr15:53327800-53328200	Flanking Active TSS	Liver	Liver
14	chr15:53328200-53330600	Enhancers	Liver	Liver
15	chr15:53328400-53329600	Weak transcription	HepG2	liver
16	chr15:53329600-53330400	Enhancers	HepG2	liver
17	chr15:53330400-53331200	Flanking Active TSS	HepG2	liver
18	chr15:53330600-53331000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr15:53337800-53339200	Enhancers	Liver	Liver
20	chr15:53338200-53338800	Enhancers	HepG2	liver
21	chr15:53349000-53349400	Enhancers	Liver	Liver
22	chr15:53349400-53350800	Weak transcription	Liver	Liver
23	chr15:53350800-53351200	Enhancers	Liver	Liver
24	chr15:53351200-53352400	Flanking Active TSS	Liver	Liver
25	chr15:53351200-53352800	Enhancers	HepG2	liver
26	chr15:53352400-53353200	Enhancers	Liver	Liver
27	chr15:53352400-53353800	Enhancers	Dnd41	blood
28	chr15:53353200-53364200	Weak transcription	Liver	Liver
29	chr15:53353800-53356600	Weak transcription	Dnd41	blood
30	chr15:53356600-53357200	Enhancers	Dnd41	blood
31	chr15:53359600-53361800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr15:53360600-53361600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr15:53362200-53363000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr15:53362600-53363200	Enhancers	NHEK	skin
35	chr15:53362800-53364200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr15:53363200-53364000	Weak transcription	NHEK	skin
37	chr15:53363200-53365200	Enhancers	Pancreas	Pancrea
38	chr15:53364000-53364400	Enhancers	Gastric	stomach
39	chr15:53364000-53364400	Enhancers	NH-A	brain
40	chr15:53364000-53364400	Enhancers	NHEK	skin
41	chr15:53364000-53364600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr15:53364000-53364600	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr15:53364200-53364600	Enhancers	Liver	Liver
44	chr15:53364400-53364600	Weak transcription	NHEK	skin
45	chr15:53364600-53365000	Enhancers	NHEK	skin
46	chr15:53372000-53373200	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr15:53372000-53373400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr15:53372000-53373600	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr15:53372200-53373200	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr15:53372200-53373400	Enhancers	H1 Cell Line	embryonic stem cell

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