Variant report

Variant	nsv984071
Chromosome Location	chr15:52356234-52359266
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:3)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:52347158..52349875-chr15:52357794..52360368,2	K562	blood:
2	chr15:52354567..52357172-chr15:52358028..52360343,2	K562	blood:
3	chr15:52351305..52354173-chr15:52357852..52359999,2	MCF-7	breast:
4	chr15:52309859..52315433-chr15:52338782..52357079,28	MCF-7	breast:
5	chr15:52342579..52344959-chr15:52354184..52356320,2	MCF-7	breast:
6	chr15:52342647..52344200-chr15:52358974..52361107,2	MCF-7	breast:
7	chr15:52359015..52361742-chr15:52367466..52369559,2	MCF-7	breast:
8	chr15:52355832..52357497-chr15:52369964..52372920,2	MCF-7	breast:
9	chr15:52354567..52357172-chr15:52358028..52360343,2	K562	blood:
10	chr15:52310998..52313546-chr15:52356718..52359024,2	MCF-7	breast:
11	chr15:52308069..52314807-chr15:52359242..52376066,34	MCF-7	breast:

No data

(count:3 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	MAPK6	hsa-miR-128-3p	chr15:52357659-52357680
2	MAPK6	hsa-miR-128-3p	chr15:52358050-52358070
3	MAPK6	hsa-miR-128-3p	chr15:52358063-52358069

Variant related genes	Relation type
ENSG00000069956	chromatin interactions
ENSG00000259438	chromatin interactions

Extended variants
information (count: 168 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:168 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559503234	chr15:52356247-52356248	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs55939916	chr15:52356260-52356261	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs372617340	chr15:52356281-52356282	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs138879227	chr15:52356284-52356285	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs374575355	chr15:52356298-52356299	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs149495146	chr15:52356313-52356314	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs368452565	chr15:52356321-52356322	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs147166125	chr15:52356336-52356337	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs570126594	chr15:52356345-52356346	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs200909174	chr15:52356350-52356351	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs140354959	chr15:52356352-52356353	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs142704242	chr15:52356359-52356360	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs190252061	chr15:52356374-52356375	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs569810183	chr15:52356381-52356382	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs551953693	chr15:52356387-52356388	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs570282127	chr15:52356393-52356394	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs534617445	chr15:52356410-52356411	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs147343540	chr15:52356479-52356480	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs569915964	chr15:52356492-52356493	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs375012210	chr15:52356494-52356495	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs200496473	chr15:52356548-52356549	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs148487587	chr15:52356549-52356550	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs371262771	chr15:52356583-52356584	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs374841305	chr15:52356589-52356590	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs142670170	chr15:52356591-52356592	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs199988498	chr15:52356618-52356619	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs368094632	chr15:52356634-52356635	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs371987419	chr15:52356669-52356670	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs535430008	chr15:52356675-52356676	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs139563932	chr15:52356697-52356698	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs375509015	chr15:52356711-52356712	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs376041003	chr15:52356718-52356719	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs143744875	chr15:52356754-52356755	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs376638037	chr15:52356755-52356756	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs368759134	chr15:52356764-52356765	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs372920091	chr15:52356801-52356802	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs537289987	chr15:52356806-52356807	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs575423229	chr15:52356830-52356831	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs144209444	chr15:52356860-52356861	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs146538100	chr15:52356877-52356878	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs201436164	chr15:52356901-52356902	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs187167606	chr15:52356902-52356903	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs149225460	chr15:52356903-52356904	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs371736330	chr15:52356906-52356907	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs143385036	chr15:52356936-52356937	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs541397063	chr15:52356950-52356951	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs559991113	chr15:52356957-52356958	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs369666891	chr15:52356990-52356991	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs574779395	chr15:52356992-52356993	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs148363441	chr15:52356995-52356996	Weak transcription Strong transcription	Chromatin interactive region	2 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:212 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:52314400-52359800	Weak transcription	Fetal Brain Male	brain
2	chr15:52332600-52361800	Weak transcription	Gastric	stomach
3	chr15:52334000-52361400	Weak transcription	Small Intestine	intestine
4	chr15:52334600-52357200	Weak transcription	Fetal Heart	heart
5	chr15:52337600-52360600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr15:52337800-52357000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr15:52339400-52359200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr15:52339600-52357000	Strong transcription	Fetal Intestine Large	intestine
9	chr15:52340200-52362200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr15:52341600-52357600	Strong transcription	Cortex derived primary cultured neurospheres	brain
11	chr15:52341800-52358000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
12	chr15:52343000-52359400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr15:52344200-52356600	Strong transcription	Primary T cells from cord blood	blood
14	chr15:52344400-52357200	Strong transcription	Left Ventricle	heart
15	chr15:52344600-52362000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr15:52345000-52357200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr15:52345000-52357800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr15:52345000-52358600	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr15:52345200-52358000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr15:52345600-52358000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr15:52345600-52358800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr15:52345600-52358800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr15:52345800-52359200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr15:52346200-52359000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr15:52346400-52357200	Strong transcription	NHEK	skin
26	chr15:52347000-52357600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr15:52347200-52356600	Strong transcription	Placenta	Placenta
28	chr15:52347200-52357000	Strong transcription	Fetal Thymus	thymus
29	chr15:52347200-52357200	Strong transcription	Fetal Muscle Trunk	muscle
30	chr15:52347200-52358800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr15:52347400-52357400	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr15:52347600-52356400	Strong transcription	Sigmoid Colon	Sigmoid Colon
33	chr15:52347600-52356400	Strong transcription	HepG2	liver
34	chr15:52347600-52358800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr15:52347800-52356400	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr15:52347800-52356400	Strong transcription	Muscle Satellite Cultured Cells	--
37	chr15:52347800-52357600	Strong transcription	HUES48 Cell Line	embryonic stem cell
38	chr15:52347800-52358800	Strong transcription	HSMM	muscle
39	chr15:52348000-52357200	Strong transcription	GM12878-XiMat	blood
40	chr15:52348000-52357600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr15:52348000-52361200	Weak transcription	Stomach Mucosa	stomach
42	chr15:52348200-52356400	Strong transcription	Primary T helper cells PMA-I stimulated	--
43	chr15:52348200-52356400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr15:52348200-52358600	Strong transcription	Primary B cells from cord blood	blood
45	chr15:52348400-52357200	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr15:52348400-52357400	Strong transcription	Osteobl	bone
47	chr15:52348400-52358800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr15:52348400-52359200	Strong transcription	NHDF-Ad	bronchial
49	chr15:52348600-52357800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
50	chr15:52348800-52357600	Strong transcription	Skeletal Muscle Female	skeletal muscle

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