Variant report

Variant	nsv819242
Chromosome Location	chr15:45059351-45078608
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:24)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:44970663..44972208-chr15:45073819..45076712,2	K562	blood:
2	chr15:45065695..45068239-chr15:45071040..45073008,2	K562	blood:
3	chr15:45065695..45068239-chr15:45071040..45073008,2	K562	blood:
4	chr15:45068193..45071978-chr15:45073632..45077696,5	K562	blood:
5	chr15:45005930..45007757-chr15:45071632..45073366,2	K562	blood:
6	chr15:45078360..45081782-chr15:45082145..45085958,6	K562	blood:
7	chr15:45078400..45082133-chr15:45082665..45085139,3	K562	blood:
8	chr15:44956051..44957659-chr15:45067545..45070010,2	K562	blood:
9	chr15:45061840..45063494-chr15:45070195..45071973,2	K562	blood:
10	chr15:45003603..45005937-chr15:45070038..45072951,3	K562	blood:
11	chr15:45074115..45076771-chr15:45078811..45081683,3	K562	blood:
12	chr15:45005716..45006437-chr15:45076991..45077613,2	MCF-7	breast:
13	chr15:45007223..45009349-chr15:45075066..45077596,2	K562	blood:
14	chr15:45020758..45022821-chr15:45070879..45074256,3	K562	blood:
15	chr15:45047427..45049440-chr15:45061614..45063472,2	K562	blood:
16	chr15:44829337..44830847-chr15:45073722..45076273,2	K562	blood:
17	chr15:44954130..44956261-chr15:45073217..45077809,7	K562	blood:
18	chr15:45018290..45020903-chr15:45076318..45078549,2	K562	blood:
19	chr15:45050487..45053149-chr15:45073962..45077607,3	K562	blood:
20	chr15:45017018..45019763-chr15:45071670..45073544,3	K562	blood:
21	chr15:45061840..45063494-chr15:45070195..45071973,2	K562	blood:
22	chr15:45003603..45005624-chr15:45070038..45072535,3	K562	blood:
23	chr15:44949692..44958566-chr15:45073635..45082479,18	K562	blood:
24	chr15:45068193..45071978-chr15:45073632..45077696,5	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PATL2-2	chr15:45062201-45062275	NONHSAT042193
2	lnc-PATL2-4	chr15:45075779-45076489	NONHSAT042194
3	lnc-PATL2-2	chr15:45061710-45061864	NONHSAT042193
4	lnc-PATL2-2	chr15:45061225-45061277	NONHSAT042193

No data

Variant related genes	Relation type
ENSG00000104131	chromatin interactions
ENSG00000185880	chromatin interactions
ENSG00000104133	chromatin interactions
ENSG00000166710	chromatin interactions

Extended variants
information (count: 796 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:796 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543578539	chr15:45059354-45059355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs12908154	chr15:45059369-45059370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs563063796	chr15:45059378-45059379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs191869525	chr15:45059388-45059389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs534094977	chr15:45059389-45059390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs6493127	chr15:45059390-45059391	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs112367336	chr15:45059440-45059441	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs374559258	chr15:45059455-45059456	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs375866898	chr15:45059479-45059480	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs367675407	chr15:45059514-45059515	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs71478342	chr15:45059520-45059521	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs142877382	chr15:45059523-45059524	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs372919928	chr15:45059539-45059540	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs202081848	chr15:45059579-45059580	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs151051317	chr15:45059588-45059589	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs144953961	chr15:45059605-45059606	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs375788351	chr15:45059647-45059648	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs547740712	chr15:45059654-45059655	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs114770697	chr15:45059662-45059663	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs201166045	chr15:45059668-45059669	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs563432757	chr15:45059681-45059682	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs371213061	chr15:45059686-45059687	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs549900763	chr15:45059689-45059690	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs569508537	chr15:45059727-45059728	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs369632375	chr15:45059745-45059746	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs535599088	chr15:45059754-45059755	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs267604225	chr15:45059763-45059764	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs375025513	chr15:45059783-45059784	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs140705646	chr15:45059789-45059790	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs145844765	chr15:45059790-45059791	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs113204970	chr15:45059806-45059807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536554781	chr15:45059808-45059809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs115326573	chr15:45059814-45059815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200649837	chr15:45059824-45059825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs149919213	chr15:45059853-45059854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201411863	chr15:45059871-45059872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs377079867	chr15:45059892-45059893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs367855776	chr15:45059944-45059945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs371429122	chr15:45059978-45059979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs376529781	chr15:45059980-45059981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs3100143	chr15:45060014-45060015	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs543539926	chr15:45060036-45060037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs569330126	chr15:45060044-45060045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs3100144	chr15:45060051-45060052	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs542375630	chr15:45060089-45060090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs374976088	chr15:45060090-45060091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs111830928	chr15:45060148-45060149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs527963489	chr15:45060196-45060197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs558651785	chr15:45060243-45060244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs145767779	chr15:45060279-45060280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	21129771	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21045282	CNVD
Breast cancer	22032731	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Melanoma	17363583	CNVD
Acute myeloid leukemia	19651601	CNVD
Marfan syndrome	17492313	CNVD
Esophageal adenocarcinoma	18820669	CNVD

Chromatin state (count:332 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45046400-45062200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr15:45047600-45059600	Weak transcription	GM12878-XiMat	blood
3	chr15:45047600-45076000	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr15:45057200-45076000	Weak transcription	Brain Anterior Caudate	brain
5	chr15:45057600-45062400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr15:45058200-45068200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr15:45059400-45059800	Active TSS	Brain Substantia Nigra	brain
8	chr15:45067200-45068400	Enhancers	HUVEC	blood vessel
9	chr15:45067800-45068600	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr15:45068000-45068400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr15:45068000-45068400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr15:45068000-45068400	Enhancers	Brain Angular Gyrus	brain
13	chr15:45068000-45068400	Enhancers	Brain Substantia Nigra	brain
14	chr15:45068000-45068400	Enhancers	Spleen	Spleen
15	chr15:45068000-45068600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr15:45068000-45068600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr15:45068000-45068600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr15:45068200-45068400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr15:45068200-45068600	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr15:45068200-45069000	Enhancers	Fetal Muscle Trunk	muscle
21	chr15:45068400-45072600	Weak transcription	Brain Substantia Nigra	brain
22	chr15:45068400-45073000	Weak transcription	Brain Angular Gyrus	brain
23	chr15:45068600-45072600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr15:45068600-45072800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr15:45068600-45073600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr15:45070800-45071600	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr15:45071600-45072800	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr15:45072600-45073000	Enhancers	K562	blood
29	chr15:45072600-45073600	Enhancers	Hela-S3	cervix
30	chr15:45072600-45073800	Enhancers	Brain Hippocampus Middle	brain
31	chr15:45072600-45073800	Enhancers	Brain Substantia Nigra	brain
32	chr15:45072600-45075800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr15:45072800-45073600	Enhancers	HepG2	liver
34	chr15:45072800-45074200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr15:45072800-45074200	Enhancers	Brain Cingulate Gyrus	brain
36	chr15:45073000-45073200	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr15:45073000-45073400	Flanking Active TSS	K562	blood
38	chr15:45073000-45073600	Enhancers	Brain Angular Gyrus	brain
39	chr15:45073400-45073800	Enhancers	K562	blood
40	chr15:45073600-45074000	Weak transcription	HepG2	liver
41	chr15:45073600-45075200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr15:45073600-45075200	Weak transcription	Hela-S3	cervix
43	chr15:45073600-45075400	Enhancers	HSMM	muscle
44	chr15:45073600-45076000	Enhancers	HMEC	breast
45	chr15:45073600-45076200	Weak transcription	Brain Angular Gyrus	brain
46	chr15:45073800-45074000	Flanking Active TSS	K562	blood
47	chr15:45073800-45075400	Enhancers	HSMMtube	muscle
48	chr15:45073800-45076000	Weak transcription	Brain Hippocampus Middle	brain
49	chr15:45073800-45076200	Weak transcription	Brain Substantia Nigra	brain
50	chr15:45074000-45074200	Enhancers	HepG2	liver

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