Variant report

Variant	esv3496412
Chromosome Location	chr15:50153161-50153366
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:50153194..50153867-chr6:7677191..7678191,2	NB4	blood:
2	chr15:50152463..50154135-chr15:50155726..50157493,2	K562	blood:
3	chr15:50148243..50150121-chr15:50151281..50153807,2	K562	blood:
4	chr15:50152597..50155381-chr15:50174380..50176402,2	MCF-7	breast:

Extended variants
information (count: 7 )
Associated
traits (count: 56 )

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	rs538122826	chr15:50153204-50153205	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs142569760	chr15:50153226-50153227	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs28706888	chr15:50153234-50153235	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs116599365	chr15:50153270-50153271	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs28436245	chr15:50153271-50153272	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs200205955	chr15:50153298-50153299	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs201533602	chr15:50153299-50153300	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
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
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
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	22032731	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Cancer	21129771	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Myelofibrosis	22110671	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50135200-50181400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr15:50135800-50187400	Weak transcription	Liver	Liver
3	chr15:50138200-50189800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr15:50140200-50155600	Weak transcription	Ovary	ovary
5	chr15:50144400-50159800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr15:50145600-50200400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr15:50146400-50160000	Strong transcription	Primary hematopoietic stem cells	blood
8	chr15:50147200-50158400	Enhancers	NHDF-Ad	bronchial
9	chr15:50147400-50153400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr15:50147400-50153400	Enhancers	Osteobl	bone
11	chr15:50149400-50155400	Weak transcription	Placenta	Placenta
12	chr15:50149400-50198000	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr15:50149600-50153400	Enhancers	Hela-S3	cervix
14	chr15:50149600-50153800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr15:50149600-50160600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr15:50149600-50160800	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr15:50150000-50155800	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr15:50151200-50153400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr15:50151600-50156600	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr15:50151800-50155600	Weak transcription	A549	lung
21	chr15:50152000-50155000	Weak transcription	HMEC	breast
22	chr15:50152000-50157400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr15:50152400-50155400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr15:50152400-50155400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr15:50152400-50155600	Weak transcription	Adipose Nuclei	Adipose
26	chr15:50152800-50153600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr15:50152800-50154800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr15:50152800-50155200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr15:50152800-50155400	Weak transcription	Right Atrium	heart
30	chr15:50152800-50155600	Weak transcription	HSMM	muscle
31	chr15:50152800-50157800	Weak transcription	Fetal Muscle Leg	muscle
32	chr15:50153000-50155400	Weak transcription	NHLF	lung

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