Variant report

Variant	esv3444289
Chromosome Location	chr15:53892709-53910738
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 788 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:788 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75686155	chr15:53892762-53892763	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs536940369	chr15:53892767-53892768	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs549037572	chr15:53892768-53892769	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs76441489	chr15:53892796-53892797	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs537793002	chr15:53892827-53892828	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs557908165	chr15:53892842-53892843	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs17549309	chr15:53892855-53892856	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs139168110	chr15:53892866-53892867	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs16966280	chr15:53892912-53892913	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs534320868	chr15:53892926-53892927	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs113504152	chr15:53892943-53892944	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs16966282	chr15:53892969-53892970	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs562397050	chr15:53893035-53893036	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs576050874	chr15:53893057-53893058	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs147589192	chr15:53893058-53893059	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185834688	chr15:53893079-53893080	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs565413504	chr15:53893113-53893114	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs190698078	chr15:53893132-53893133	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548019269	chr15:53893161-53893162	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs142018014	chr15:53893162-53893163	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs180992292	chr15:53893193-53893194	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187055938	chr15:53893196-53893197	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192301642	chr15:53893334-53893335	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs184079049	chr15:53893348-53893349	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs144216031	chr15:53893392-53893393	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs571347050	chr15:53893393-53893394	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs533646993	chr15:53893394-53893395	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs553790549	chr15:53893399-53893400	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs573758178	chr15:53893416-53893417	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs187324316	chr15:53893426-53893427	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535523485	chr15:53893509-53893510	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs73408222	chr15:53893544-53893545	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs190622087	chr15:53893585-53893586	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs147763264	chr15:53893592-53893593	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs182453774	chr15:53893601-53893602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs572540674	chr15:53893726-53893727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs148817384	chr15:53893738-53893739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs561385460	chr15:53893739-53893740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs143415609	chr15:53893788-53893789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs543997372	chr15:53893795-53893796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs148376647	chr15:53893796-53893797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs138363633	chr15:53893806-53893807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs58948469	chr15:53893807-53893808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs113305498	chr15:53893808-53893809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs397746916	chr15:53893810-53893811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs532833308	chr15:53893813-53893814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs187087701	chr15:53893820-53893821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs551403074	chr15:53893856-53893857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs571164801	chr15:53893866-53893867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs527239114	chr15:53893886-53893887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:53871400-53906600	Weak transcription	Fetal Kidney	kidney
2	chr15:53879400-53905000	Weak transcription	Pancreas	Pancrea
3	chr15:53884400-53904000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr15:53884600-53903400	Weak transcription	A549	lung
5	chr15:53888600-53893600	Strong transcription	Liver	Liver
6	chr15:53893600-53897200	Weak transcription	Liver	Liver
7	chr15:53897200-53898400	Strong transcription	Liver	Liver
8	chr15:53898400-53900400	Weak transcription	Liver	Liver
9	chr15:53900400-53908400	Strong transcription	Liver	Liver
10	chr15:53902400-53903400	Enhancers	HUVEC	blood vessel
11	chr15:53903000-53903200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
12	chr15:53903000-53903400	Enhancers	HepG2	liver
13	chr15:53903200-53904000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr15:53903200-53904200	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr15:53903200-53905200	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr15:53903400-53903800	Flanking Active TSS	HUVEC	blood vessel
17	chr15:53903400-53904200	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr15:53903400-53904600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr15:53903400-53904800	Enhancers	A549	lung
20	chr15:53903400-53904800	Enhancers	NH-A	brain
21	chr15:53903400-53905000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr15:53903800-53904800	Enhancers	HUVEC	blood vessel
23	chr15:53904000-53904200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
24	chr15:53904000-53904400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr15:53904000-53904800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr15:53904200-53904600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr15:53904200-53905000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr15:53904400-53905200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr15:53904600-53905200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr15:53905000-53905200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
31	chr15:53905000-53905200	Enhancers	Pancreas	Pancrea
32	chr15:53905200-53910800	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr15:53905200-53918200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr15:53908400-53918400	Weak transcription	Liver	Liver
35	chr15:53910600-53911200	Enhancers	HUES64 Cell Line	embryonic stem cell

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