Variant report

Variant	esv3378759
Chromosome Location	chr15:52314984-52315359
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr15:52315066-52315189	K562	blood:	n/a	n/a
2	POLR2A	chr15:52315357-52315887	A549	lung:	n/a	n/a
3	POLR2A	chr15:52315273-52315974	GM12878	blood:	n/a	n/a
4	POLR2A	chr15:52315334-52315783	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr15:52315063-52315091	A549	lung:	n/a	n/a
6	ZNF384	chr15:52315323-52315902	K562	blood:	n/a	chr15:52315743-52315751
7	ZNF384	chr15:52315254-52315590	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:52262263..52265564-chr15:52309489..52315686,9	K562	blood:
2	chr15:52271865..52274806-chr15:52313995..52316353,2	MCF-7	breast:
3	chr15:52273590..52276860-chr15:52313793..52315606,3	MCF-7	breast:
4	chr15:52313958..52316321-chr15:52317299..52319618,2	K562	blood:

Variant related genes	Relation type
ENSG00000259438	TF binding region
MAPK6	TF binding region
ENSG00000166477	chromatin interactions

Extended variants
information (count: 18 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556529829	chr15:52314996-52314997	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs575042027	chr15:52315017-52315018	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs539121940	chr15:52315022-52315023	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs184616734	chr15:52315031-52315032	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs143114754	chr15:52315046-52315047	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs113791279	chr15:52315122-52315123	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs559999461	chr15:52315134-52315135	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs574994554	chr15:52315160-52315161	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs542286923	chr15:52315174-52315175	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs112783900	chr15:52315179-52315180	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs563672476	chr15:52315194-52315195	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs371994679	chr15:52315253-52315254	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs531054852	chr15:52315263-52315264	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs60315520	chr15:52315304-52315305	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs529721466	chr15:52315316-52315317	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs375324007	chr15:52315322-52315323	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs397952765	chr15:52315325-52315326	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs71130117	chr15:52315326-52315327	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Breast cancer	21364760	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:140 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:52311200-52315800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr15:52312800-52345400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr15:52313000-52315000	Active TSS	HepG2	liver
4	chr15:52313000-52315400	Enhancers	Primary T cells fromperipheralblood	blood
5	chr15:52313000-52315800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr15:52313200-52315200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr15:52313200-52315800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr15:52313400-52315200	Enhancers	Fetal Thymus	thymus
9	chr15:52313400-52316400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr15:52313400-52316400	Enhancers	Brain Cingulate Gyrus	brain
11	chr15:52313400-52317400	Enhancers	Brain Substantia Nigra	brain
12	chr15:52313400-52325400	Weak transcription	Aorta	Aorta
13	chr15:52313600-52315000	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr15:52313600-52315800	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr15:52313600-52316000	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr15:52313600-52316400	Enhancers	Brain Hippocampus Middle	brain
17	chr15:52313600-52324800	Weak transcription	Fetal Stomach	stomach
18	chr15:52313600-52325400	Weak transcription	Thymus	Thymus
19	chr15:52313800-52315000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr15:52313800-52315600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr15:52313800-52315800	Enhancers	Brain Angular Gyrus	brain
22	chr15:52313800-52316000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr15:52313800-52329400	Weak transcription	Fetal Heart	heart
24	chr15:52314000-52315000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr15:52314000-52315400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr15:52314000-52315600	Enhancers	NH-A	brain
27	chr15:52314000-52315800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr15:52314000-52315800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr15:52314000-52315800	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr15:52314000-52315800	Enhancers	Stomach Mucosa	stomach
31	chr15:52314000-52316000	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr15:52314000-52316000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr15:52314000-52316000	Enhancers	Stomach Smooth Muscle	stomach
34	chr15:52314000-52320600	Weak transcription	Primary T cells from cord blood	blood
35	chr15:52314200-52315000	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr15:52314200-52315000	Enhancers	Right Atrium	heart
37	chr15:52314200-52315000	Enhancers	Small Intestine	intestine
38	chr15:52314200-52315000	Enhancers	HUVEC	blood vessel
39	chr15:52314200-52315200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
40	chr15:52314200-52315800	Enhancers	Pancreatic Islets	Pancreatic Islet
41	chr15:52314200-52316000	Enhancers	Primary T helper cells PMA-I stimulated	--
42	chr15:52314200-52316000	Enhancers	Left Ventricle	heart
43	chr15:52314200-52316400	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr15:52314400-52315000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
45	chr15:52314400-52315000	Flanking Active TSS	Liver	Liver
46	chr15:52314400-52315000	Enhancers	Gastric	stomach
47	chr15:52314400-52315200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr15:52314400-52315200	Flanking Active TSS	K562	blood
49	chr15:52314400-52315400	Weak transcription	Colon Smooth Muscle	Colon
50	chr15:52314400-52315400	Flanking Active TSS	NHEK	skin

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