Variant report

Variant	esv3450020
Chromosome Location	chr15:45527088-45535134
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:45525902..45527824-chr15:45528206..45530884,2	K562	blood:
2	chr15:45525902..45527824-chr15:45528206..45530884,2	K562	blood:

Extended variants
information (count: 225 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:225 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111446540	chr15:45527089-45527090	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs4775822	chr15:45527127-45527128	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs151287010	chr15:45527173-45527174	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs548381666	chr15:45527187-45527188	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs568024970	chr15:45527202-45527203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs191397836	chr15:45527219-45527220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs183715176	chr15:45527220-45527221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs187045011	chr15:45527235-45527236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs150961679	chr15:45527294-45527295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs377319273	chr15:45527303-45527304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs4775823	chr15:45527305-45527306	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs4775824	chr15:45527341-45527342	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs537595280	chr15:45527358-45527359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs575914497	chr15:45527375-45527376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs200216954	chr15:45527394-45527395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs544443310	chr15:45527463-45527464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs555152531	chr15:45527495-45527496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs139309190	chr15:45527504-45527505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548633094	chr15:45527514-45527515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs540324575	chr15:45527643-45527644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs4775826	chr15:45527677-45527678	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs190356769	chr15:45527688-45527689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs182237162	chr15:45527709-45527710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs35898822	chr15:45527717-45527718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs562409174	chr15:45527802-45527803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531645272	chr15:45527834-45527835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs11854234	chr15:45527835-45527836	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs11857919	chr15:45527862-45527863	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs147672271	chr15:45527910-45527911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs534552511	chr15:45527988-45527989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs142327899	chr15:45527989-45527990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs207475444	chr15:45527991-45527992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs11854294	chr15:45527996-45527997	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs186945994	chr15:45528102-45528103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs193249205	chr15:45528122-45528123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs11854345	chr15:45528152-45528153	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs11854347	chr15:45528178-45528179	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs185373011	chr15:45528208-45528209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs555008115	chr15:45528209-45528210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs574964194	chr15:45528219-45528220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs557004917	chr15:45528241-45528242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs575369303	chr15:45528255-45528256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553824670	chr15:45528256-45528257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs11854377	chr15:45528322-45528323	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs386783613	chr15:45528382-45528383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs28789819	chr15:45528383-45528384	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs531656295	chr15:45528391-45528392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs114262270	chr15:45528404-45528405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs189084592	chr15:45528412-45528413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs527458297	chr15:45528427-45528428	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:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45525600-45529200	Weak transcription	Fetal Heart	heart
2	chr15:45526600-45527200	ZNF genes & repeats	Left Ventricle	heart
3	chr15:45526800-45527200	ZNF genes & repeats	Gastric	stomach
4	chr15:45527200-45529000	Weak transcription	Left Ventricle	heart
5	chr15:45529000-45529200	ZNF genes & repeats	Left Ventricle	heart
6	chr15:45529200-45529600	Enhancers	Fetal Heart	heart
7	chr15:45532400-45536200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
8	chr15:45532800-45535400	ZNF genes & repeats	Adipose Nuclei	Adipose
9	chr15:45533400-45534800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr15:45533600-45535200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
11	chr15:45533800-45534800	ZNF genes & repeats	Brain Hippocampus Middle	brain
12	chr15:45533800-45536200	ZNF genes & repeats	Liver	Liver
13	chr15:45534000-45535600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
14	chr15:45534400-45534800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
15	chr15:45534400-45535000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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