Variant report

Variant	esv275019
Chromosome Location	chr15:74577204-74577809
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	chr15:74562822..74565405-chr15:74577566..74579863,2	MCF-7	breast:
2	chr15:74572770..74575577-chr15:74577511..74579830,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs351207	chr15:74577204-74577205	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs573755607	chr15:74577216-74577217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs373637986	chr15:74577241-74577242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs563137940	chr15:74577274-74577275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs530751744	chr15:74577292-74577293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs77903372	chr15:74577313-74577314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs563950447	chr15:74577326-74577327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs528109031	chr15:74577330-74577331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs546240157	chr15:74577404-74577405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs2959016	chr15:74577467-74577468	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs373619465	chr15:74577468-74577469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs551238675	chr15:74577469-74577470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs2959015	chr15:74577495-74577496	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs351206	chr15:74577497-74577498	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs370907343	chr15:74577502-74577503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs377675027	chr15:74577526-74577527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs201894150	chr15:74577541-74577542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs397715042	chr15:74577543-74577544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs573422925	chr15:74577560-74577561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs534208833	chr15:74577598-74577599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201010725	chr15:74577622-74577623	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs189377062	chr15:74577625-74577626	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs201403209	chr15:74577636-74577637	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs573842697	chr15:74577637-74577638	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs11634020	chr15:74577672-74577673	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs115374661	chr15:74577795-74577796	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	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
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
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	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
Gastrointestinal stromal cancer	20877625	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Prostate cancer	16573809	CNVD
Autism	17322880	CNVD
phobic disorder	16773131	CNVD
Autism	21480499	CNVD
Disorders of sex development	22290220	CNVD
Mental retardation	19951919	CNVD
Mental retardation	16773131	CNVD
T-cell lymphomas	19863542	CNVD
15q24 microdeletion syndrome	22180641	CNVD
15q24 microdeletion syndrome	19921647	CNVD
Disease	22216833	CNVD
Mental retardation	17360722	CNVD
15q24 microdeletion syndrome	22216833	CNVD
15q24 microdeletion syndrome	22283845	CNVD
Developmental delay	17932688	CNVD
craniofacial dysmorphism	17932688	CNVD
digital and genital abnormalities	17932688	CNVD
Breast cancer	21364760	CNVD
Epilepsy	22083797	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Bipolar disorder	19114987	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74568000-74583800	Weak transcription	Right Atrium	heart
2	chr15:74570800-74579000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr15:74576400-74579000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr15:74576400-74583400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr15:74577000-74582800	Weak transcription	Fetal Brain Male	brain
6	chr15:74577200-74579000	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr15:74577200-74583400	Weak transcription	Fetal Brain Female	brain
8	chr15:74577600-74577800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin

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