Variant report

Variant	esv3369134
Chromosome Location	chr15:76451283-76451775
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	chr15:76446927..76448705-chr15:76450684..76453682,2	MCF-7	breast:
2	chr15:76440836..76444169-chr15:76451014..76453553,3	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113301225	chr15:76451363-76451364	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs2959861	chr15:76451365-76451366	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs72736828	chr15:76451368-76451369	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs373388840	chr15:76451411-76451412	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs560977231	chr15:76451420-76451421	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs191197527	chr15:76451527-76451528	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs528434681	chr15:76451531-76451532	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs543690899	chr15:76451578-76451579	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs183529811	chr15:76451614-76451615	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs188222427	chr15:76451650-76451651	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs547353507	chr15:76451667-76451668	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs79392556	chr15:76451697-76451698	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs527701479	chr15:76451712-76451713	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs181954500	chr15:76451758-76451759	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs567465600	chr15:76451762-76451763	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs537938582	chr15:76451766-76451767	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

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
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
Autism	17322880	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Multiple myeloma	16616336	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
Breast cancer	21364760	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:76433000-76452800	Weak transcription	Right Atrium	heart
2	chr15:76443000-76453800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr15:76443200-76483000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr15:76443400-76466000	Weak transcription	Brain Angular Gyrus	brain
5	chr15:76444400-76452800	Weak transcription	HMEC	breast
6	chr15:76444800-76453400	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr15:76445800-76453400	Weak transcription	Spleen	Spleen
8	chr15:76446400-76451800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr15:76446800-76452800	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr15:76446800-76453600	Weak transcription	Fetal Brain Male	brain
11	chr15:76448400-76453200	Weak transcription	HSMM	muscle
12	chr15:76448800-76456000	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr15:76449400-76452600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr15:76449400-76452800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr15:76450000-76452600	Weak transcription	HSMMtube	muscle
16	chr15:76450400-76451400	Bivalent Enhancer	Fetal Muscle Leg	muscle
17	chr15:76450600-76451600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr15:76451200-76451400	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
19	chr15:76451200-76451600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr15:76451200-76452000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
21	chr15:76451600-76451800	Enhancers	Placenta	Placenta

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