Variant report

Variant	esv2263457
Chromosome Location	chr15:50944854-50944856
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:50944212..50946075-chr15:50977425..50980194,3	K562	blood:
2	chr15:50916244..50918510-chr15:50943858..50945461,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000092439	chromatin interactions

Extended variants
information (count: 3 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141785189	chr15:50944854-50944855	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs201066892	chr15:50944855-50944856	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs191003474	chr15:50944856-50944857	Weak transcription Strong transcription Genic enhancers	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	chr15:50846000-50950800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:50854600-50957400	Strong transcription	Primary T helper cells fromperipheralblood	blood
3	chr15:50869800-50967600	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr15:50871600-50957600	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr15:50894400-50955600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr15:50895000-50954400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr15:50895200-50959000	Strong transcription	Liver	Liver
8	chr15:50906400-50977400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr15:50908000-50961800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr15:50916000-50946200	Strong transcription	Primary B cells from peripheral blood	blood
11	chr15:50916000-50959200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr15:50917400-50946600	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr15:50917600-50957400	Strong transcription	Fetal Intestine Large	intestine
14	chr15:50918600-50951600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr15:50918800-50950000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr15:50918800-50951200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr15:50919200-50967800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr15:50921600-50967600	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr15:50923400-50977600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr15:50923600-50977600	Weak transcription	Brain Substantia Nigra	brain
21	chr15:50925400-50948600	Weak transcription	NHLF	lung
22	chr15:50925800-50959000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr15:50926200-50950800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr15:50926200-50951400	Strong transcription	Left Ventricle	heart
25	chr15:50926200-50959200	Strong transcription	Fetal Intestine Small	intestine
26	chr15:50926200-50959600	Strong transcription	Fetal Stomach	stomach
27	chr15:50927400-50950200	Strong transcription	Fetal Thymus	thymus
28	chr15:50927600-50946200	Strong transcription	GM12878-XiMat	blood
29	chr15:50928000-50945000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr15:50928800-50958400	Weak transcription	Esophagus	oesophagus
31	chr15:50929200-50969200	Weak transcription	Small Intestine	intestine
32	chr15:50930000-50968000	Weak transcription	Fetal Kidney	kidney
33	chr15:50932400-50952000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr15:50933200-50945400	Weak transcription	Stomach Mucosa	stomach
35	chr15:50934600-50951600	Weak transcription	Colon Smooth Muscle	Colon
36	chr15:50934800-50945800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr15:50935000-50975800	Weak transcription	Pancreas	Pancrea
38	chr15:50935200-50967600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr15:50935600-50945000	Weak transcription	Brain Cingulate Gyrus	brain
40	chr15:50935800-50947800	Weak transcription	Brain Anterior Caudate	brain
41	chr15:50936600-50947600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr15:50937200-50946200	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr15:50937200-50956000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr15:50937800-50946200	Strong transcription	Primary hematopoietic stem cells	blood
45	chr15:50937800-50946800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
46	chr15:50937800-50951000	Strong transcription	Osteobl	bone
47	chr15:50938000-50954800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr15:50938200-50946200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr15:50938200-50949200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr15:50938400-50946600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links