Variant report

Variant	esv3390554
Chromosome Location	chr15:51875085-51878508
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:51877838..51880078-chr15:51913640..51915227,2	MCF-7	breast:
2	chr15:51870256..51872104-chr15:51873625..51875575,3	K562	blood:
3	chr15:51876863..51879432-chr15:51880781..51882627,2	MCF-7	breast:
4	chr15:51860984..51863229-chr15:51878270..51880253,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104093	chromatin interactions

Extended variants
information (count: 79 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:79 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548463081	chr15:51875089-51875090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs543303981	chr15:51875109-51875110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs563006542	chr15:51875114-51875115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs180986092	chr15:51875132-51875133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs576369837	chr15:51875136-51875137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs543419134	chr15:51875149-51875150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs78572781	chr15:51875164-51875165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs532610306	chr15:51875201-51875202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs573721966	chr15:51875306-51875307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs200552628	chr15:51875317-51875318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs28437312	chr15:51875318-51875319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
12	rs541577882	chr15:51875324-51875325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs559583246	chr15:51875364-51875365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs529941677	chr15:51875406-51875407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548447068	chr15:51875429-51875430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs62015987	chr15:51875458-51875459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs375387934	chr15:51875462-51875463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs533445717	chr15:51875479-51875480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs551319805	chr15:51875572-51875573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs570023313	chr15:51875601-51875602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs369043103	chr15:51875611-51875612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs373010631	chr15:51875646-51875647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs62015992	chr15:51875652-51875653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs376563943	chr15:51875669-51875670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs62015993	chr15:51875677-51875678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs369345674	chr15:51875775-51875776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs373163007	chr15:51875823-51875824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs187180119	chr15:51875958-51875959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190070942	chr15:51876264-51876265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs377608231	chr15:51877106-51877107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs12910677	chr15:51877302-51877303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs566653735	chr15:51877358-51877359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs7176971	chr15:51877397-51877398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs551842901	chr15:51877450-51877451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs570125621	chr15:51877454-51877455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs185067491	chr15:51877462-51877463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs376291793	chr15:51877469-51877470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs565915386	chr15:51877495-51877496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs536481072	chr15:51877524-51877525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs555160689	chr15:51877532-51877533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs2414107	chr15:51877556-51877557	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs544104762	chr15:51877598-51877599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs558982347	chr15:51877603-51877604	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs528582102	chr15:51877604-51877605	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs190272826	chr15:51877624-51877625	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs372646793	chr15:51877631-51877632	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs559919781	chr15:51877653-51877654	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs530231037	chr15:51877686-51877687	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs548866119	chr15:51877694-51877695	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs541629748	chr15:51877745-51877746	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:51869600-51875200	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr15:51869600-51889600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr15:51870000-51875200	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr15:51870800-51882400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr15:51871600-51881600	Weak transcription	Adipose Nuclei	Adipose
6	chr15:51873400-51875200	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr15:51873600-51875400	Enhancers	K562	blood
8	chr15:51873600-51880400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr15:51874800-51878200	Weak transcription	Liver	Liver
10	chr15:51875200-51877400	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr15:51875200-51877400	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr15:51875200-51877800	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr15:51875400-51891400	Weak transcription	K562	blood
14	chr15:51877400-51877600	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr15:51877400-51878000	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr15:51877600-51878200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr15:51877800-51883000	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr15:51878000-51878200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
19	chr15:51878000-51878600	Enhancers	HepG2	liver
20	chr15:51878200-51878400	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr15:51878200-51878600	Enhancers	Liver	Liver
22	chr15:51878200-51878600	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr15:51878400-51878600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood

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