Variant report

Variant	esv3311750
Chromosome Location	chr15:45066808-45067493
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	chr15:45065695..45068239-chr15:45071040..45073008,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138272697	chr15:45066849-45066850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs534982010	chr15:45066856-45066857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs557991031	chr15:45066912-45066913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs578210368	chr15:45066913-45066914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs117080088	chr15:45066936-45066937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs146241902	chr15:45066967-45066968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs557797009	chr15:45066970-45066971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs545698004	chr15:45067008-45067009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs559585342	chr15:45067066-45067067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs189554781	chr15:45067123-45067124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs545232718	chr15:45067136-45067137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs78361956	chr15:45067140-45067141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs368545164	chr15:45067202-45067203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs563739366	chr15:45067246-45067247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs11635845	chr15:45067285-45067286	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs2470915	chr15:45067302-45067303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs3110676	chr15:45067316-45067317	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs567286396	chr15:45067317-45067318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs62025969	chr15:45067377-45067378	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs181566612	chr15:45067384-45067385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs9672363	chr15:45067416-45067417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs534856707	chr15:45067472-45067473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	21129771	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21045282	CNVD
Breast cancer	22032731	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Melanoma	17363583	CNVD
Acute myeloid leukemia	19651601	CNVD
Marfan syndrome	17492313	CNVD
Esophageal adenocarcinoma	18820669	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45047600-45076000	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr15:45057200-45076000	Weak transcription	Brain Anterior Caudate	brain
3	chr15:45058200-45068200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr15:45067200-45068400	Enhancers	HUVEC	blood vessel

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