Variant report

Variant	esv3497180
Chromosome Location	chr15:59712830-59713269
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551058387	chr15:59712831-59712832	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs186863078	chr15:59712859-59712860	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs192156426	chr15:59712894-59712895	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs201343830	chr15:59712899-59712900	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs199811564	chr15:59712900-59712901	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs556198726	chr15:59712916-59712917	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs574632499	chr15:59712917-59712918	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs111584584	chr15:59713019-59713020	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201629325	chr15:59713215-59713216	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs200816097	chr15:59713217-59713218	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs147503010	chr15:59713225-59713226	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
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
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17053054	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	21129771	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Holoprosencephaly	21359414	CNVD
Myelofibrosis	22110671	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Mental retardation	17124404	CNVD
Gastrointestinal stromal cancer	20877625	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59710600-59713400	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr15:59711200-59713600	Enhancers	Primary B cells from cord blood	blood
3	chr15:59711600-59713000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr15:59711600-59713600	Enhancers	Primary B cells from peripheral blood	blood
5	chr15:59712000-59713600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr15:59712200-59713400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
7	chr15:59712200-59713800	Enhancers	H9 Cell Line	embryonic stem cell
8	chr15:59712400-59713200	Enhancers	H1 Cell Line	embryonic stem cell
9	chr15:59712400-59713400	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr15:59712400-59713400	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr15:59712600-59713200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr15:59712600-59713400	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr15:59712600-59713400	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr15:59713200-59713600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
15	chr15:59713200-59713600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
16	chr15:59713200-59713800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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