Variant report

Variant	esv3311720
Chromosome Location	chr15:34989684-34990077
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:34983650..34987842-chr15:34989482..34992979,5	K562	blood:
2	chr15:34988822..34991429-chr15:34996883..34999400,2	K562	blood:
3	chr15:34989332..34992979-chr15:34995533..34998034,4	K562	blood:
4	chr15:34983650..34987345-chr15:34990001..34992979,4	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138121601	chr15:34989701-34989702	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs376827570	chr15:34989707-34989708	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs561645773	chr15:34989709-34989710	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs149329032	chr15:34989756-34989757	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs143577545	chr15:34989770-34989771	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs564981144	chr15:34989772-34989773	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs532370984	chr15:34989803-34989804	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs34318635	chr15:34989848-34989849	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs11073060	chr15:34989851-34989852	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	disease
10	rs568606848	chr15:34989956-34989957	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs188139661	chr15:34989960-34989961	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs367594859	chr15:34989963-34989964	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192642914	chr15:34989980-34989981	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs548877871	chr15:34989988-34989989	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs551495152	chr15:34990015-34990016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs185421241	chr15:34990074-34990075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs574051998	chr15:34990075-34990076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Hodgkin''s lymphoma	18641027	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
Hodgkin''s lymphoma	17606441	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
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Abnormal corpus callosum	21572526	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
Legius syndrome	19443465	CNVD
Holoprosencephaly	21359414	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Prader-willi syndrome	21504564	CNVD
Cancer	17440070	CNVD
Basal cell lymphoma	17053054	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:34986200-34991600	Weak transcription	HUVEC	blood vessel
2	chr15:34988600-34989800	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr15:34988800-34989800	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr15:34989000-34990200	Enhancers	K562	blood
5	chr15:34989000-34993800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr15:34989200-34989800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr15:34989200-34990000	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr15:34989200-34990000	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr15:34989400-34989800	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr15:34989600-34993800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr15:34989800-34993800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr15:34990000-34993800	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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