Variant report

Variant	esv3375645
Chromosome Location	chr15:39994618-39995187
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:39987378..39989028-chr15:39993423..39995543,2	K562	blood:
2	chr15:39992994..39994897-chr15:40000779..40002890,3	K562	blood:
3	chr12:56989910..56991430-chr15:39994772..39997768,2	K562	blood:
4	chr15:39989762..39992879-chr15:39994931..39996889,3	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs61694079	chr15:39994620-39994621	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs143072733	chr15:39994624-39994625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs372667518	chr15:39994632-39994633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs113719413	chr15:39994644-39994645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs116305169	chr15:39994646-39994647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs548512982	chr15:39994708-39994709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs185805526	chr15:39994858-39994859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs543644886	chr15:39994908-39994909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs58907194	chr15:39994973-39994974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs59912340	chr15:39994974-39994975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs562342015	chr15:39995030-39995031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs189433848	chr15:39995076-39995077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs547732076	chr15:39995090-39995091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs570801475	chr15:39995167-39995168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs201019992	chr15:39995182-39995183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs563336806	chr15:39995183-39995184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs67911946	chr15:39995184-39995185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs201691741	chr15:39995185-39995186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs57038394	chr15:39995186-39995187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs79641621	chr15:39995187-39995188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
HDAC8	0	CNVD
NIPBL	0	CNVD
RAD21	0	CNVD
SMC1A	0	CNVD
SMC3	0	CNVD
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Angelman syndrome	16183798	CNVD
Acute lymphoblastic leukemia	20067559	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
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	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
Autism	19204725	CNVD
Schizophrenia	19204725	CNVD
Schizophrenia	19149910	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	17440070	CNVD
Basal cell lymphoma	17053054	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21129771	CNVD
Breast cancer	21045282	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	22032731	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Ovarian cancer	21720365	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:39985600-39996600	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr15:39985800-39996400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr15:39985800-39996600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr15:39988000-39996600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr15:39991200-39996600	Weak transcription	Placenta	Placenta
6	chr15:39992400-39996600	Weak transcription	Osteobl	bone
7	chr15:39992800-39996600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr15:39993000-39996600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr15:39993000-39996600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr15:39993000-39996600	Weak transcription	NHDF-Ad	bronchial
11	chr15:39993200-39996800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr15:39994200-39999400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr15:39994200-39999600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr15:39994600-39996200	Weak transcription	K562	blood
15	chr15:39995000-39996800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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