Variant report

Variant	nsv526682
Chromosome Location	chr15:59992758-59994943
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:59991616..59994286-chr15:59995841..59997534,2	K562	blood:
2	chr15:59985971..59988155-chr15:59991640..59994225,2	K562	blood:
3	chr15:59980286..59982488-chr15:59991849..59993428,2	K562	blood:
4	chr15:59980286..59983504-chr15:59984854..59993428,11	K562	blood:
5	chr15:59992550..59995081-chr15:59995698..59998010,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000140299	chromatin interactions
ENSG00000259238	chromatin interactions

Extended variants
information (count: 64 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:64 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10519039	chr15:59992758-59992759	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs190619521	chr15:59992783-59992784	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs11634157	chr15:59992809-59992810	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs9920894	chr15:59992844-59992845	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs529235075	chr15:59992853-59992854	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs151147915	chr15:59992864-59992865	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs566153186	chr15:59992884-59992885	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs559508398	chr15:59992899-59992900	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs533221933	chr15:59992975-59992976	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs535109748	chr15:59992977-59992978	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs569844352	chr15:59993036-59993037	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs12916590	chr15:59993038-59993039	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs370309608	chr15:59993041-59993042	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs10692320	chr15:59993058-59993059	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs530803187	chr15:59993063-59993064	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs549403065	chr15:59993064-59993065	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs567814330	chr15:59993071-59993072	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs535333199	chr15:59993201-59993202	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs545223349	chr15:59993202-59993203	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs111889061	chr15:59993209-59993210	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs571832096	chr15:59993287-59993288	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs373065961	chr15:59993318-59993319	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs539262949	chr15:59993341-59993342	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs140252932	chr15:59993374-59993375	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs375926329	chr15:59993391-59993392	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs576247287	chr15:59993440-59993441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs544177802	chr15:59993479-59993480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs138090647	chr15:59993486-59993487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs557271950	chr15:59993548-59993549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs543440570	chr15:59993549-59993550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs7162645	chr15:59993594-59993595	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs145539344	chr15:59993609-59993610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs555331490	chr15:59993676-59993677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs546093196	chr15:59993704-59993705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs6494140	chr15:59993842-59993843	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs116993481	chr15:59993861-59993862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs532941371	chr15:59993862-59993863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs138168036	chr15:59993953-59993954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs542439449	chr15:59994055-59994056	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs560322343	chr15:59994056-59994057	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs544839461	chr15:59994065-59994066	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs563436894	chr15:59994081-59994082	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs530913584	chr15:59994115-59994116	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs78454714	chr15:59994157-59994158	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs567663447	chr15:59994243-59994244	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs181016874	chr15:59994262-59994263	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs185685310	chr15:59994274-59994275	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs142551099	chr15:59994309-59994310	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs12901933	chr15:59994355-59994356	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs539225427	chr15:59994394-59994395	Enhancers Weak transcription Flanking Active TSS	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
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
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17053054	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	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
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Holoprosencephaly	21359414	CNVD
Myelofibrosis	22110671	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Mental retardation	17124404	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59989000-59994000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr15:59989000-59994000	Weak transcription	K562	blood
3	chr15:59989800-59995000	Enhancers	NHEK	skin
4	chr15:59989800-59998400	Enhancers	Hela-S3	cervix
5	chr15:59991600-59993000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr15:59991600-59993000	Enhancers	HUVEC	blood vessel
7	chr15:59992000-59992800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr15:59992000-59992800	Flanking Active TSS	A549	lung
9	chr15:59992200-59992800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr15:59992200-59993000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr15:59992200-59993000	Enhancers	Stomach Mucosa	stomach
12	chr15:59992200-59993000	Enhancers	HMEC	breast
13	chr15:59992200-59993200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr15:59992800-59993800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr15:59992800-59994000	Enhancers	A549	lung
16	chr15:59992800-59996800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr15:59993000-59994000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr15:59993000-59994000	Weak transcription	Stomach Mucosa	stomach
19	chr15:59993000-59998000	Weak transcription	HMEC	breast
20	chr15:59993200-59993600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr15:59993600-59995800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr15:59993800-59994600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr15:59994000-59994400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr15:59994000-59994400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr15:59994000-59994400	Enhancers	Stomach Mucosa	stomach
26	chr15:59994000-59994400	Flanking Active TSS	A549	lung
27	chr15:59994000-59994400	Enhancers	K562	blood
28	chr15:59994400-59996600	Enhancers	A549	lung
29	chr15:59994400-59997800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr15:59994600-59996000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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