Variant report

Variant	esv1001541
Chromosome Location	chr15:52839342-52843856
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:5)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:52820155..52821987-chr15:52843809..52846033,3	MCF-7	breast:
2	chr15:52837831..52839348-chr15:52842783..52844541,2	MCF-7	breast:
3	chr15:52836622..52839186-chr15:52841792..52845841,4	K562	blood:
4	chr15:52842678..52845632-chr15:52848301..52850165,2	MCF-7	breast:
5	chr15:52840038..52842725-chr15:52855232..52857599,3	MCF-7	breast:
6	chr15:52840935..52843406-chr15:52859635..52861520,2	K562	blood:
7	chr15:52833192..52836682-chr15:52837514..52841667,6	K562	blood:
8	chr15:52834988..52836682-chr15:52839402..52841667,2	K562	blood:
9	chr15:52838405..52842641-chr15:52848798..52852133,5	MCF-7	breast:
10	chr15:52837261..52840412-chr15:52840986..52844425,3	K562	blood:
11	chr15:52839655..52842439-chr15:52848700..52850727,2	MCF-7	breast:
12	chr15:52837831..52839348-chr15:52842783..52844541,2	MCF-7	breast:
13	chr15:52842839..52845667-chr15:52845683..52848317,2	K562	blood:
14	chr15:52834312..52836237-chr15:52837980..52840201,2	MCF-7	breast:
15	chr15:52837261..52840412-chr15:52840986..52844425,3	K562	blood:
16	chr15:52838384..52840575-chr15:52859458..52861427,2	MCF-7	breast:

No data

(count:5 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	ARPP19	hsa-miR-320a	chr15:52843595-52843619
2	ARPP19	hsa-miR-92a-3p	chr15:52839621-52839615
3	ARPP19	hsa-miR-320a	chr15:52843601-52843594
4	ARPP19	hsa-let-7b-5p	chr15:52841790-52841812
5	ARPP19	hsa-let-7b-5p	chr15:52841796-52841789

Variant related genes	Relation type
ENSG00000197535	chromatin interactions
ENSG00000128989	chromatin interactions

Extended variants
information (count: 182 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:182 , 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	rs537700872	chr15:52839389-52839390	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs566926983	chr15:52839428-52839429	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs3179658	chr15:52839437-52839438	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs527693126	chr15:52839464-52839465	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs180752634	chr15:52839474-52839475	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs369730896	chr15:52839524-52839525	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs150686841	chr15:52839529-52839530	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs570987509	chr15:52839552-52839553	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs537794440	chr15:52839560-52839561	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs527428399	chr15:52839573-52839574	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs186699370	chr15:52839577-52839578	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs538800379	chr15:52839619-52839620	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs144790664	chr15:52839629-52839630	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs189643512	chr15:52839641-52839642	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs376636476	chr15:52839660-52839661	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs572130969	chr15:52839668-52839669	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs535253515	chr15:52839671-52839672	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs1061827	chr15:52839682-52839683	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs181175136	chr15:52839689-52839690	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs372546244	chr15:52839719-52839720	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs553631559	chr15:52839782-52839783	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs554655537	chr15:52839804-52839805	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs576101111	chr15:52839810-52839811	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs62023329	chr15:52839813-52839814	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs578123963	chr15:52839856-52839857	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs563177409	chr15:52839970-52839971	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs578125056	chr15:52839994-52839995	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs11539781	chr15:52840023-52840024	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs186764558	chr15:52840030-52840031	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs560219193	chr15:52840044-52840045	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs11857682	chr15:52840085-52840086	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs549062725	chr15:52840089-52840090	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs560987054	chr15:52840106-52840107	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs148525086	chr15:52840123-52840124	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs532843777	chr15:52840173-52840174	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs146817392	chr15:52840195-52840196	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs369187604	chr15:52840196-52840197	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs55680970	chr15:52840198-52840199	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs549833929	chr15:52840244-52840245	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs553634035	chr15:52840255-52840256	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs571486395	chr15:52840299-52840300	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs34066645	chr15:52840309-52840310	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs190473695	chr15:52840373-52840374	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs370184205	chr15:52840402-52840403	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs547524477	chr15:52840405-52840406	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs552862715	chr15:52840406-52840407	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs386783991	chr15:52840417-52840418	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs1724575	chr15:52840418-52840419	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs372971020	chr15:52840449-52840450	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs147661141	chr15:52840454-52840455	Weak transcription Strong 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:231 , 50 per page) page: 1 2 3 4 5

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	chr15:52838000-52839400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr15:52838000-52839600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr15:52838000-52839800	Strong transcription	HMEC	breast
29	chr15:52838000-52840400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr15:52838000-52843400	Strong transcription	Liver	Liver
31	chr15:52838000-52844000	Strong transcription	Adipose Nuclei	Adipose
32	chr15:52838000-52844600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr15:52838000-52845200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr15:52838000-52846200	Strong transcription	Primary T cells from cord blood	blood
35	chr15:52838000-52846800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr15:52838000-52847000	Strong transcription	Fetal Thymus	thymus
37	chr15:52838000-52849200	Strong transcription	Osteobl	bone
38	chr15:52838000-52849400	Strong transcription	H1 Cell Line	embryonic stem cell
39	chr15:52838000-52853000	Strong transcription	Dnd41	blood
40	chr15:52838200-52839400	Strong transcription	H9 Cell Line	embryonic stem cell
41	chr15:52838200-52839400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
42	chr15:52838200-52839400	Strong transcription	HSMMtube	muscle
43	chr15:52838200-52839400	Strong transcription	HUVEC	blood vessel
44	chr15:52838200-52840200	Strong transcription	NH-A	brain
45	chr15:52838200-52841000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr15:52838200-52843400	Strong transcription	Skeletal Muscle Female	skeletal muscle
47	chr15:52838200-52844600	Strong transcription	NHEK	skin
48	chr15:52838200-52844800	Strong transcription	Stomach Smooth Muscle	stomach
49	chr15:52838200-52845800	Strong transcription	Muscle Satellite Cultured Cells	--
50	chr15:52838200-52849000	Strong transcription	Primary T helper cells fromperipheralblood	blood

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