Variant report

Variant	esv3311740
Chromosome Location	chr15:43565939-43566434
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	chr15:43565402..43569124-chr15:43569756..43572834,3	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28616572	chr15:43565967-43565968	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs558903599	chr15:43566080-43566081	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs186474158	chr15:43566094-43566095	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs368517341	chr15:43566104-43566105	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs35278581	chr15:43566121-43566122	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs201149576	chr15:43566174-43566175	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs540551880	chr15:43566219-43566220	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs564597801	chr15:43566224-43566225	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs568847264	chr15:43566233-43566234	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs567526799	chr15:43566237-43566238	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs201746492	chr15:43566249-43566250	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs567465185	chr15:43566250-43566251	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs529978548	chr15:43566251-43566252	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs570272	chr15:43566255-43566256	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs546806273	chr15:43566268-43566269	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs142759555	chr15:43566277-43566278	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs558284639	chr15:43566287-43566288	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs190869011	chr15:43566336-43566337	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs537262091	chr15:43566337-43566338	Weak transcription Enhancers Bivalent Enhancer	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
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17053054	CNVD
Hodgkin''s lymphoma	18641027	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
Renal cell carcinoma	18765545	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
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43561400-43568000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr15:43563200-43566400	Weak transcription	Esophagus	oesophagus
3	chr15:43563600-43566600	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr15:43565200-43566600	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr15:43565400-43566000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr15:43565400-43566000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr15:43565400-43568800	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr15:43565400-43570600	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr15:43565400-43570800	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr15:43565600-43566000	Bivalent Enhancer	Fetal Muscle Leg	muscle
11	chr15:43565600-43566600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr15:43565600-43566800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr15:43565600-43566800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
14	chr15:43565800-43568000	Weak transcription	Psoas Muscle	Psoas
15	chr15:43565800-43569600	Weak transcription	Primary B cells from peripheral blood	blood
16	chr15:43566000-43566400	Enhancers	Fetal Muscle Leg	muscle
17	chr15:43566000-43568600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr15:43566200-43566600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr15:43566200-43566800	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
20	chr15:43566200-43574600	Weak transcription	Gastric	stomach
21	chr15:43566400-43566600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr15:43566400-43566600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr15:43566400-43566600	Enhancers	Esophagus	oesophagus
24	chr15:43566400-43566600	Enhancers	Pancreas	Pancrea
25	chr15:43566400-43566800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr15:43566400-43566800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr15:43566400-43566800	Enhancers	HMEC	breast

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