Variant report

Variant	nsv976936
Chromosome Location	chr15:52797408-52800785
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:52796242..52797868-chr15:52798025..52800305,2	MCF-7	breast:
2	chr15:52800525..52802072-chr15:52819994..52822179,2	MCF-7	breast:
3	chr15:52710263..52712786-chr15:52797709..52799309,2	MCF-7	breast:
4	chr15:52799417..52803271-chr15:52809477..52812870,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000231169	chromatin interactions
ENSG00000197535	chromatin interactions

Extended variants
information (count: 137 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:137 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564298632	chr15:52797411-52797412	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs528170558	chr15:52797413-52797414	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs183373393	chr15:52797415-52797416	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs561656948	chr15:52797416-52797417	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs528927356	chr15:52797428-52797429	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs35537416	chr15:52797462-52797463	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs61749592	chr15:52797466-52797467	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs570212232	chr15:52797470-52797471	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs112697735	chr15:52797500-52797501	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs537764144	chr15:52797512-52797513	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs552331157	chr15:52797572-52797573	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs570746442	chr15:52797576-52797577	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs542668764	chr15:52797700-52797701	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs191130673	chr15:52797716-52797717	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs553098841	chr15:52797718-52797719	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs370278603	chr15:52797730-52797731	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs574597096	chr15:52797772-52797773	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs556272338	chr15:52797796-52797797	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs535443234	chr15:52797817-52797818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs112715502	chr15:52797818-52797819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs557343438	chr15:52797847-52797848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs575423734	chr15:52797849-52797850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs111668888	chr15:52797886-52797887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs186826539	chr15:52797891-52797892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs191392402	chr15:52797960-52797961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs185075806	chr15:52797967-52797968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs114454115	chr15:52797981-52797982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs528993176	chr15:52797998-52797999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs543827587	chr15:52798001-52798002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs139521817	chr15:52798032-52798033	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs531096087	chr15:52798047-52798048	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs376306222	chr15:52798114-52798115	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs79527256	chr15:52798115-52798116	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs543420536	chr15:52798134-52798135	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs79605962	chr15:52798135-52798136	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
36	rs528617994	chr15:52798167-52798168	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs546802411	chr15:52798182-52798183	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs568430536	chr15:52798188-52798189	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs376359024	chr15:52798215-52798216	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs187897301	chr15:52798247-52798248	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs557059504	chr15:52798271-52798272	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs569265699	chr15:52798294-52798295	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs193187722	chr15:52798307-52798308	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs149488455	chr15:52798315-52798316	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs573177177	chr15:52798330-52798331	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs540387993	chr15:52798331-52798332	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs62023293	chr15:52798345-52798346	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs371735364	chr15:52798351-52798352	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs185227890	chr15:52798362-52798363	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs573626550	chr15:52798363-52798364	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Ovarian clear cell carcinoma	21343371	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:52774600-52802600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr15:52778600-52812400	Weak transcription	Right Ventricle	heart
3	chr15:52784800-52798800	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr15:52785000-52801200	Weak transcription	Right Atrium	heart
5	chr15:52786400-52812400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr15:52789600-52806600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr15:52791400-52798800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr15:52792000-52801600	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr15:52792000-52815200	Weak transcription	NHLF	lung
10	chr15:52792200-52799400	Weak transcription	Brain Angular Gyrus	brain
11	chr15:52794600-52803400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr15:52794800-52797800	Enhancers	Primary B cells from peripheral blood	blood
13	chr15:52795000-52800800	Weak transcription	Brain Anterior Caudate	brain
14	chr15:52795000-52802800	Weak transcription	Colon Smooth Muscle	Colon
15	chr15:52795200-52798800	Weak transcription	Brain Cingulate Gyrus	brain
16	chr15:52795200-52799000	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr15:52795400-52799000	Weak transcription	Brain Substantia Nigra	brain
18	chr15:52795400-52801200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr15:52795600-52797600	Enhancers	Muscle Satellite Cultured Cells	--
20	chr15:52795600-52797800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr15:52795600-52797800	Enhancers	Adipose Nuclei	Adipose
22	chr15:52795600-52798000	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr15:52796000-52797600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr15:52796000-52797800	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr15:52796000-52797800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr15:52796000-52798000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr15:52796000-52798000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr15:52796000-52798000	Enhancers	HMEC	breast
29	chr15:52796200-52797600	Enhancers	Primary T cells fromperipheralblood	blood
30	chr15:52796400-52797600	Enhancers	Brain Hippocampus Middle	brain
31	chr15:52796400-52798200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr15:52796400-52798400	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr15:52796600-52800800	Weak transcription	HSMMtube	muscle
34	chr15:52796800-52799400	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr15:52796800-52799600	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr15:52796800-52801000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr15:52796800-52801600	Weak transcription	HSMM	muscle
38	chr15:52796800-52802200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr15:52796800-52803200	Weak transcription	NHDF-Ad	bronchial
40	chr15:52796800-52811200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr15:52796800-52819400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr15:52796800-52820000	Weak transcription	Primary T cells from cord blood	blood
43	chr15:52797000-52815200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr15:52797200-52797600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr15:52797200-52797800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr15:52797400-52797600	Enhancers	NHEK	skin
47	chr15:52797400-52797800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
48	chr15:52797400-52798800	Weak transcription	GM12878-XiMat	blood
49	chr15:52797400-52800600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr15:52797400-52810200	Weak transcription	Primary B cells from cord blood	blood

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