Variant report

Variant	esv2419498
Chromosome Location	chr15:52839529-52839531
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:52838384..52840575-chr15:52859458..52861427,2	MCF-7	breast:
2	chr15:52834312..52836237-chr15:52837980..52840201,2	MCF-7	breast:
3	chr15:52834988..52836682-chr15:52839402..52841667,2	K562	blood:
4	chr15:52837261..52840412-chr15:52840986..52844425,3	K562	blood:
5	chr15:52838405..52842641-chr15:52848798..52852133,5	MCF-7	breast:
6	chr15:52833192..52836682-chr15:52837514..52841667,6	K562	blood:

Variant related genes	Relation type
ENSG00000128989	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 56 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150686841	chr15:52839529-52839530	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	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
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
Gastrointestinal stromal cancer	20818650	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:52822200-52839600	Weak transcription	Right Atrium	heart
2	chr15:52828800-52850400	Weak transcription	Fetal Brain Male	brain
3	chr15:52830000-52841200	Weak transcription	HepG2	liver
4	chr15:52835800-52845800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr15:52836200-52851400	Weak transcription	Fetal Kidney	kidney
6	chr15:52836400-52842200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr15:52836400-52855200	Weak transcription	Small Intestine	intestine
8	chr15:52836600-52844000	Weak transcription	K562	blood
9	chr15:52836600-52844200	Weak transcription	Psoas Muscle	Psoas
10	chr15:52836600-52846000	Weak transcription	Stomach Mucosa	stomach
11	chr15:52836600-52849000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr15:52836800-52848200	Weak transcription	Brain Cingulate Gyrus	brain
13	chr15:52837200-52844800	Strong transcription	A549	lung
14	chr15:52837400-52844000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr15:52837400-52844600	Strong transcription	HSMM	muscle
16	chr15:52837400-52847000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr15:52837400-52849400	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr15:52837600-52849400	Strong transcription	NHDF-Ad	bronchial
19	chr15:52837600-52852000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr15:52837800-52840000	Strong transcription	Fetal Heart	heart
21	chr15:52837800-52840600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr15:52837800-52841000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
23	chr15:52837800-52842400	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr15:52837800-52846000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr15:52837800-52853000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr15:52838000-52839600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr15:52838000-52839800	Strong transcription	HMEC	breast
28	chr15:52838000-52840400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr15:52838000-52843400	Strong transcription	Liver	Liver
30	chr15:52838000-52844000	Strong transcription	Adipose Nuclei	Adipose
31	chr15:52838000-52844600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr15:52838000-52845200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr15:52838000-52846200	Strong transcription	Primary T cells from cord blood	blood
34	chr15:52838000-52846800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr15:52838000-52847000	Strong transcription	Fetal Thymus	thymus
36	chr15:52838000-52849200	Strong transcription	Osteobl	bone
37	chr15:52838000-52849400	Strong transcription	H1 Cell Line	embryonic stem cell
38	chr15:52838000-52853000	Strong transcription	Dnd41	blood
39	chr15:52838200-52840200	Strong transcription	NH-A	brain
40	chr15:52838200-52841000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr15:52838200-52843400	Strong transcription	Skeletal Muscle Female	skeletal muscle
42	chr15:52838200-52844600	Strong transcription	NHEK	skin
43	chr15:52838200-52844800	Strong transcription	Stomach Smooth Muscle	stomach
44	chr15:52838200-52845800	Strong transcription	Muscle Satellite Cultured Cells	--
45	chr15:52838200-52849000	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr15:52838200-52849200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr15:52838200-52849400	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr15:52838200-52850000	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr15:52838400-52840400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
50	chr15:52838400-52840400	Strong transcription	Rectal Mucosa Donor 31	rectum

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