Variant report

Variant	esv1920856
Chromosome Location	chr15:50875341-50875344
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:50872361..50874007-chr15:50875166..50877011,2	K562	blood:
2	chr15:50864188..50868322-chr15:50872346..50875460,4	MCF-7	breast:
3	chr15:50872361..50874197-chr15:50874784..50877011,2	K562	blood:

Variant related genes	Relation type
ENSG00000092439	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 58 )

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	rs148771191	chr15:50875341-50875342	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Myelofibrosis	22110671	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	21364760	CNVD
Bipolar disorder	19114987	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Ovarian clear cell carcinoma	21343371	CNVD

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50837000-50882800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr15:50846000-50950800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr15:50847000-50920600	Weak transcription	Aorta	Aorta
4	chr15:50848800-50894800	Strong transcription	Liver	Liver
5	chr15:50849000-50894600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr15:50849200-50883600	Weak transcription	Pancreas	Pancrea
7	chr15:50849200-50883600	Weak transcription	Small Intestine	intestine
8	chr15:50850800-50892000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr15:50851800-50936400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr15:50852000-50897400	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr15:50852200-50890200	Weak transcription	Psoas Muscle	Psoas
12	chr15:50852200-50896800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr15:50852800-50879000	Strong transcription	Adipose Nuclei	Adipose
14	chr15:50852800-50887200	Strong transcription	Rectal Mucosa Donor 29	rectum
15	chr15:50852800-50888600	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr15:50852800-50893200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr15:50854600-50957400	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr15:50855200-50879200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr15:50855600-50890200	Weak transcription	Fetal Brain Male	brain
20	chr15:50855600-50907200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr15:50855600-50919600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr15:50856400-50892600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr15:50857200-50875600	Strong transcription	NHDF-Ad	bronchial
24	chr15:50857400-50922800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr15:50859400-50892000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr15:50859600-50888000	Strong transcription	Duodenum Smooth Muscle	Duodenum
27	chr15:50859600-50916600	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr15:50860400-50875600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
29	chr15:50860600-50888000	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr15:50860800-50891800	Strong transcription	Primary T helper cells PMA-I stimulated	--
31	chr15:50861000-50893600	Strong transcription	Placenta	Placenta
32	chr15:50861400-50878800	Strong transcription	Stomach Smooth Muscle	stomach
33	chr15:50861400-50879000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr15:50861600-50892200	Strong transcription	Dnd41	blood
35	chr15:50862800-50891000	Strong transcription	A549	lung
36	chr15:50864000-50907400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr15:50864200-50893800	Strong transcription	Osteobl	bone
38	chr15:50865800-50884400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr15:50865800-50890000	Weak transcription	Brain Substantia Nigra	brain
40	chr15:50867400-50894800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr15:50867400-50908200	Weak transcription	Stomach Mucosa	stomach
42	chr15:50867600-50880000	Weak transcription	Brain Hippocampus Middle	brain
43	chr15:50867600-50880800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr15:50868200-50877600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr15:50868600-50876200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr15:50869200-50892400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr15:50869400-50882600	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr15:50869400-50883800	Weak transcription	Esophagus	oesophagus
49	chr15:50869800-50883600	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr15:50869800-50883600	Weak transcription	Spleen	Spleen

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