Variant report

Variant	esv3366471
Chromosome Location	chr15:78105920-78106227
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:78097066..78100710-chr15:78102142..78106147,5	K562	blood:
2	chr15:77948459..77951097-chr15:78104975..78107913,2	MCF-7	breast:
3	chr15:78083797..78085667-chr15:78106019..78108853,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561165273	chr15:78105965-78105966	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs190869314	chr15:78105972-78105973	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs550301268	chr15:78105983-78105984	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs571741183	chr15:78105995-78105996	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs375136483	chr15:78106073-78106074	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs79638928	chr15:78106081-78106082	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs79912539	chr15:78106091-78106092	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs11852704	chr15:78106103-78106104	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs11072677	chr15:78106124-78106125	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs374349925	chr15:78106177-78106178	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs569562420	chr15:78106190-78106191	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs183827093	chr15:78106194-78106195	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs139853352	chr15:78106206-78106207	Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs576495941	chr15:78106226-78106227	Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Wilms tumour	21544195	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
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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	17322880	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Autism	21480499	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78100800-78106400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr15:78100800-78108400	Weak transcription	Fetal Brain Female	brain
3	chr15:78101000-78107200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr15:78101400-78106400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr15:78101600-78110400	Weak transcription	Brain Angular Gyrus	brain
6	chr15:78102800-78108200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr15:78103600-78107200	Weak transcription	Gastric	stomach
8	chr15:78104800-78109200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr15:78104800-78109200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr15:78105000-78106000	Enhancers	Placenta	Placenta
11	chr15:78105600-78106400	Enhancers	Fetal Brain Male	brain
12	chr15:78105800-78109800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
13	chr15:78106000-78107000	Weak transcription	Placenta	Placenta
14	chr15:78106200-78106600	Bivalent/Poised TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived

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