Variant report

Variant	esv3397114
Chromosome Location	chr15:34505167-34505498
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:34500965..34503586-chr15:34505222..34506873,2	K562	blood:
2	chr15:34390233..34392584-chr15:34504198..34505938,2	K562	blood:
3	chr15:34504430..34506466-chr15:34515218..34517671,3	K562	blood:

Variant related genes	Relation type
ENSG00000134152	chromatin interactions
ENSG00000128463	chromatin interactions

Extended variants
information (count: 7 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184056599	chr15:34505222-34505223	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs567830094	chr15:34505257-34505258	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs80224526	chr15:34505284-34505285	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs553985838	chr15:34505378-34505379	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs572154536	chr15:34505394-34505395	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs373661660	chr15:34505421-34505422	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs73384024	chr15:34505423-34505424	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:68)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:34502600-34506200	Weak transcription	Fetal Thymus	thymus
2	chr15:34502600-34510000	Weak transcription	NHLF	lung
3	chr15:34503600-34506600	Weak transcription	K562	blood
4	chr15:34503800-34506000	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr15:34504400-34505600	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr15:34504400-34506200	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr15:34504600-34506000	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr15:34504600-34506000	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr15:34504600-34506400	Enhancers	H1 Cell Line	embryonic stem cell
10	chr15:34504600-34507200	Enhancers	H9 Cell Line	embryonic stem cell
11	chr15:34504800-34506000	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr15:34504800-34506400	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr15:34505000-34505200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr15:34505000-34506000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr15:34505000-34506000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr15:34505000-34510200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr15:34505200-34506200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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