Variant report

Variant	esv275198
Chromosome Location	chr15:53114710-53123005
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	chr15:53079651..53082730-chr15:53114348..53117214,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000169856	chromatin interactions

Extended variants
information (count: 133 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:133 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7176412	chr15:53114710-53114711	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs549803293	chr15:53114713-53114714	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs565116222	chr15:53114723-53114724	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs532190668	chr15:53114724-53114725	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs547153299	chr15:53114791-53114792	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs565457231	chr15:53114814-53114815	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs140950496	chr15:53114826-53114827	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs547790207	chr15:53114840-53114841	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs144797164	chr15:53114863-53114864	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs538578873	chr15:53114892-53114893	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs556559679	chr15:53114899-53114900	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs144742643	chr15:53114934-53114935	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs539252143	chr15:53115081-53115082	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs117117281	chr15:53115111-53115112	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs115334075	chr15:53115117-53115118	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs374398652	chr15:53115119-53115120	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs543104848	chr15:53115126-53115127	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs544985196	chr15:53115202-53115203	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs148524169	chr15:53115212-53115213	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs74014124	chr15:53115224-53115225	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs142800954	chr15:53115268-53115269	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs565047480	chr15:53115291-53115292	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs532406161	chr15:53115406-53115407	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs547190204	chr15:53115432-53115433	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs12324430	chr15:53115455-53115456	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs529777560	chr15:53115457-53115458	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs560290195	chr15:53115459-53115460	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs183998535	chr15:53115489-53115490	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs549319453	chr15:53115499-53115500	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs536628631	chr15:53115557-53115558	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs552119004	chr15:53115573-53115574	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs79683527	chr15:53115583-53115584	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs151048997	chr15:53115606-53115607	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs74014125	chr15:53115631-53115632	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs566268575	chr15:53115653-53115654	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs11629906	chr15:53115668-53115669	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs554749165	chr15:53115670-53115671	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs188157192	chr15:53115685-53115686	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs113803035	chr15:53115737-53115738	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs543472473	chr15:53115744-53115745	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs377053143	chr15:53115772-53115773	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs576732593	chr15:53115792-53115793	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs12324437	chr15:53115800-53115801	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs2899501	chr15:53115815-53115816	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs76356191	chr15:53115826-53115827	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs531324588	chr15:53115831-53115832	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs141210268	chr15:53115849-53115850	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs72740287	chr15:53115855-53115856	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs372881304	chr15:53115890-53115891	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs146749203	chr15:53115898-53115899	Weak transcription	Chromatin interactive region	1 gene(s)	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
Ovarian clear cell carcinoma	21343371	CNVD
Myelofibrosis	22110671	CNVD
Acute monocytic leukemia	16498392	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:53100600-53116600	Weak transcription	Liver	Liver
2	chr15:53114000-53114800	Weak transcription	Pancreas	Pancrea
3	chr15:53114000-53116400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr15:53114200-53115400	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr15:53114400-53115200	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr15:53114800-53115000	Enhancers	Pancreas	Pancrea
7	chr15:53114800-53115400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr15:53115000-53116600	Weak transcription	Pancreas	Pancrea
9	chr15:53116400-53116600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
10	chr15:53116400-53116600	Flanking Active TSS	HepG2	liver
11	chr15:53116400-53117000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr15:53116600-53117000	Flanking Active TSS	Liver	Liver
13	chr15:53116600-53117000	Active TSS	HepG2	liver
14	chr15:53116800-53117000	ZNF genes & repeats	Pancreas	Pancrea
15	chr15:53117000-53117400	Weak transcription	Pancreas	Pancrea
16	chr15:53117000-53117600	Enhancers	Liver	Liver

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