Variant report

Variant	esv3385784
Chromosome Location	chr15:53492461-53521900
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:
2	chr15:53516800..53518385-chr15:53519039..53521500,2	MCF-7	breast:

Extended variants
information (count: 1238 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:1238 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7169933	chr15:53492484-53492485	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs569161249	chr15:53492492-53492493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs28557174	chr15:53492494-53492495	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs556879322	chr15:53492520-53492521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs533462685	chr15:53492522-53492523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs7170105	chr15:53492550-53492551	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs553148583	chr15:53492600-53492601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs578363	chr15:53492646-53492647	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs521554	chr15:53492702-53492703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs115848359	chr15:53492760-53492761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs369315679	chr15:53492773-53492774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs561888054	chr15:53492778-53492779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs575463140	chr15:53492792-53492793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs190789430	chr15:53492807-53492808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564485605	chr15:53492827-53492828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs689771	chr15:53492835-53492836	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs74016446	chr15:53492837-53492838	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs560172521	chr15:53492838-53492839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs182300406	chr15:53492840-53492841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs187815033	chr15:53492857-53492858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs144413237	chr15:53492935-53492936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs191335767	chr15:53492950-53492951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551813837	chr15:53492954-53492955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs570422084	chr15:53492972-53492973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs56978331	chr15:53493009-53493010	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs553009960	chr15:53493018-53493019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs115952956	chr15:53493072-53493073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs146618864	chr15:53493093-53493094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555587590	chr15:53493100-53493101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs112680331	chr15:53493115-53493116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs58389492	chr15:53493145-53493146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544492840	chr15:53493146-53493147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs183253505	chr15:53493188-53493189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs473249	chr15:53493208-53493209	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs540187744	chr15:53493213-53493214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs560135548	chr15:53493221-53493222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs529311745	chr15:53493222-53493223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs568460451	chr15:53493256-53493257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs563073919	chr15:53493272-53493273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs187788718	chr15:53493284-53493285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs552038850	chr15:53493290-53493291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs535890851	chr15:53493295-53493296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs8031971	chr15:53493314-53493315	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs546587083	chr15:53493335-53493336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs566510274	chr15:53493379-53493380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs143305080	chr15:53493409-53493410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs77311472	chr15:53493417-53493418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs569025392	chr15:53493502-53493503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs537603648	chr15:53493506-53493507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs201260458	chr15:53493511-53493512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:53489000-53496000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr15:53490000-53493800	Weak transcription	Thymus	Thymus
3	chr15:53490000-53494800	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr15:53490000-53495200	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr15:53490000-53495400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr15:53490400-53495600	Weak transcription	Liver	Liver
7	chr15:53490400-53495800	Weak transcription	HepG2	liver
8	chr15:53491600-53492800	Enhancers	Dnd41	blood
9	chr15:53492200-53493200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr15:53492400-53493400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr15:53492800-53493200	Weak transcription	Dnd41	blood
12	chr15:53493200-53495000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr15:53493200-53497200	Enhancers	Dnd41	blood
14	chr15:53493400-53496800	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr15:53493400-53497000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr15:53493800-53494000	Enhancers	Pancreas	Pancrea
17	chr15:53493800-53496600	Enhancers	Fetal Thymus	thymus
18	chr15:53493800-53496600	Enhancers	Thymus	Thymus
19	chr15:53493800-53497400	Enhancers	Primary hematopoietic stem cells	blood
20	chr15:53494000-53495200	Weak transcription	Pancreas	Pancrea
21	chr15:53494800-53495000	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr15:53494800-53495000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr15:53494800-53495600	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr15:53495000-53495200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr15:53495000-53495400	Enhancers	Fetal Muscle Leg	muscle
26	chr15:53495000-53496400	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr15:53495000-53496400	Enhancers	H1 Cell Line	embryonic stem cell
28	chr15:53495000-53496400	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr15:53495000-53496400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr15:53495000-53498800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr15:53495200-53495600	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr15:53495200-53495800	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr15:53495200-53496200	Enhancers	Pancreas	Pancrea
34	chr15:53495200-53496400	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr15:53495200-53496400	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr15:53495200-53496600	Enhancers	Psoas Muscle	Psoas
37	chr15:53495200-53503000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr15:53495400-53495600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr15:53495600-53496000	Enhancers	Liver	Liver
40	chr15:53495600-53496200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
41	chr15:53495600-53496200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr15:53495600-53496200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
43	chr15:53495800-53496000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr15:53495800-53496200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr15:53495800-53496400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr15:53495800-53496600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr15:53495800-53496600	Enhancers	HepG2	liver
48	chr15:53496000-53496200	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr15:53496000-53496400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr15:53496000-53496600	Enhancers	Cortex derived primary cultured neurospheres	brain

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