Variant report

Variant	nsv569430
Chromosome Location	chr15:53518466-53543226
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	chr15:53516800..53518385-chr15:53519039..53521500,2	MCF-7	breast:

Extended variants
information (count: 978 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:978 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7168646	chr15:53518466-53518467	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs566290309	chr15:53518473-53518474	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs535800690	chr15:53518486-53518487	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs77308823	chr15:53518502-53518503	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs563975043	chr15:53518513-53518514	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs528790856	chr15:53518532-53518533	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs546988459	chr15:53518576-53518577	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs567296797	chr15:53518578-53518579	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs570907074	chr15:53518580-53518581	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs181375136	chr15:53518618-53518619	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs139357998	chr15:53518644-53518645	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs149933090	chr15:53518660-53518661	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs538803525	chr15:53518661-53518662	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs145030816	chr15:53518677-53518678	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572367122	chr15:53518685-53518686	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs528094576	chr15:53518704-53518705	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs187216067	chr15:53518751-53518752	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs547735336	chr15:53518837-53518838	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190521398	chr15:53518838-53518839	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs62023586	chr15:53518842-53518843	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574726764	chr15:53518851-53518852	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543472548	chr15:53518868-53518869	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs563765366	chr15:53518873-53518874	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577298683	chr15:53518881-53518882	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs545969475	chr15:53518934-53518935	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs148664175	chr15:53518938-53518939	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs557410138	chr15:53518951-53518952	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs569534674	chr15:53518960-53518961	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs142129917	chr15:53518977-53518978	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs147794592	chr15:53518993-53518994	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs141143805	chr15:53519024-53519025	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs55907700	chr15:53519074-53519075	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs529665792	chr15:53519105-53519106	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs549526932	chr15:53519143-53519144	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569710318	chr15:53519151-53519152	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs11632242	chr15:53519169-53519170	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs146923852	chr15:53519177-53519178	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs147958075	chr15:53519178-53519179	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs140583485	chr15:53519236-53519237	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs12908835	chr15:53519260-53519261	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs568277283	chr15:53519285-53519286	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs11857258	chr15:53519309-53519310	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs180981576	chr15:53519335-53519336	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs186016605	chr15:53519368-53519369	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs576924041	chr15:53519369-53519370	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545936584	chr15:53519399-53519400	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs370797591	chr15:53519401-53519402	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs553062102	chr15:53519427-53519428	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs535026519	chr15:53519429-53519430	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs75677254	chr15:53519484-53519485	Enhancers Weak transcription	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
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
Myelofibrosis	22110671	CNVD
Acute monocytic leukemia	16498392	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Ovarian cancer	21781307	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:53512200-53519800	Weak transcription	HepG2	liver
2	chr15:53518000-53519800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr15:53519800-53520200	Enhancers	HepG2	liver
4	chr15:53520200-53524800	Weak transcription	HepG2	liver
5	chr15:53524800-53526000	Enhancers	HepG2	liver
6	chr15:53527400-53527600	Enhancers	Pancreas	Pancrea
7	chr15:53527600-53528200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr15:53527600-53542400	Weak transcription	Pancreas	Pancrea
9	chr15:53528200-53528400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr15:53538600-53538800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr15:53538600-53539800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr15:53538600-53540400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr15:53538800-53546200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr15:53539000-53540200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr15:53539400-53540000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr15:53539800-53540200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr15:53539800-53540200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr15:53539800-53540400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr15:53539800-53540400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr15:53542400-53542600	Enhancers	Pancreas	Pancrea
21	chr15:53542600-53543000	Weak transcription	Pancreas	Pancrea
22	chr15:53543000-53543200	Enhancers	Pancreas	Pancrea
23	chr15:53543200-53544200	Weak transcription	Pancreas	Pancrea
24	chr15:53543200-53545000	Enhancers	Liver	Liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links