Variant report

Variant	nsv569432
Chromosome Location	chr15:53785483-53811621
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:6)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:53676316..53677210-chr15:53803959..53804881,5	MCF-7	breast:
2	chr15:53058029..53058639-chr15:53804127..53804960,2	MCF-7	breast:
3	chr15:53057791..53058697-chr15:53803561..53804782,4	MCF-7	breast:
4	chr15:53676343..53677288-chr15:53803650..53804851,6	MCF-7	breast:
5	chr15:53072513..53073379-chr15:53804086..53804809,3	MCF-7	breast:
6	chr15:53811069..53813390-chr15:53814144..53816117,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-WDR72-2	chr15:53805938-53809951	NONHSAT043966
2	lnc-WDR72-2	chr15:53805938-53809951	NONHSAT043967

No data

Extended variants
information (count: 893 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:893 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12595143	chr15:53785483-53785484	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs62007597	chr15:53785501-53785502	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs550215993	chr15:53785515-53785516	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs571578187	chr15:53785543-53785544	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs138466097	chr15:53785594-53785595	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs532310573	chr15:53785666-53785667	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs539780548	chr15:53785684-53785685	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs549183224	chr15:53785687-53785688	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs74015583	chr15:53785740-53785741	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs542258161	chr15:53785767-53785768	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs562071048	chr15:53785794-53785795	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs575649681	chr15:53785812-53785813	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs190737480	chr15:53785819-53785820	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs564564918	chr15:53785825-53785826	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs547718616	chr15:53785850-53785851	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs533333165	chr15:53785872-53785873	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs76362880	chr15:53785887-53785888	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs952993	chr15:53785933-53785934	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs952994	chr15:53785975-53785976	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs182309044	chr15:53786069-53786070	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs10518722	chr15:53786081-53786082	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs568045397	chr15:53786083-53786084	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs145103724	chr15:53786087-53786088	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs550637766	chr15:53786096-53786097	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs570690335	chr15:53786153-53786154	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs539668115	chr15:53786193-53786194	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs34010000	chr15:53786200-53786201	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs75246802	chr15:53786210-53786211	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs573181647	chr15:53786211-53786212	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs34579414	chr15:53786222-53786223	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs535691185	chr15:53786230-53786231	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs113924295	chr15:53786275-53786276	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs186165132	chr15:53786282-53786283	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs4294760	chr15:53786291-53786292	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs557806773	chr15:53786300-53786301	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs148327307	chr15:53786323-53786324	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs540437799	chr15:53786360-53786361	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs141442258	chr15:53786400-53786401	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs150829835	chr15:53786438-53786439	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs190974890	chr15:53786463-53786464	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs561566289	chr15:53786478-53786479	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs558138161	chr15:53786499-53786500	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs530506429	chr15:53786507-53786508	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs182762876	chr15:53786514-53786515	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs570575450	chr15:53786516-53786517	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs533015071	chr15:53786537-53786538	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs5812685	chr15:53786557-53786558	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs561419189	chr15:53786559-53786560	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs546817481	chr15:53786561-53786562	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs566664901	chr15:53786565-53786566	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:53784800-53786800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr15:53791800-53792200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr15:53792200-53806800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr15:53799600-53799800	Enhancers	Pancreas	Pancrea
5	chr15:53802000-53804400	Enhancers	HepG2	liver
6	chr15:53802000-53828000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr15:53802800-53805000	Weak transcription	Liver	Liver
8	chr15:53804200-53821600	Weak transcription	A549	lung
9	chr15:53805000-53806400	Enhancers	Liver	Liver
10	chr15:53806400-53810800	Weak transcription	Liver	Liver
11	chr15:53806800-53810000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr15:53807000-53807200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr15:53807200-53812000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr15:53810000-53814200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr15:53810800-53811000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr15:53810800-53817400	Strong transcription	Liver	Liver
17	chr15:53811000-53811600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr15:53811000-53816200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr15:53811600-53813200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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