Variant report

Variant	esv2274906
Chromosome Location	chr15:41626903-41626905
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:38)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:38 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr15:41626673-41627190	K562	blood:	n/a	n/a
2	BHLHE40	chr15:41626886-41626908	K562	blood:	n/a	n/a
3	CCNT2	chr15:41626520-41627036	K562	blood:	n/a	n/a
4	CEBPB	chr15:41626817-41627062	K562	blood:	n/a	n/a
5	CEBPB	chr15:41626653-41627268	K562	blood:	n/a	n/a
6	CEBPD	chr15:41626559-41627130	K562	blood:	n/a	n/a
7	CEBPD	chr15:41626657-41627183	K562	blood:	n/a	n/a
8	EP300	chr15:41626690-41627054	K562	blood:	n/a	n/a
9	GATA1	chr15:41626542-41627297	PBDE	blood:	n/a	chr15:41626884-41626895
10	GATA2	chr15:41626579-41627103	K562	blood:	n/a	chr15:41626884-41626895
11	GTF3C2	chr15:41625093-41627178	Hela-S3	cervix:	n/a	n/a
12	HEY1	chr15:41626501-41626919	K562	blood:	n/a	n/a
13	IRF1	chr15:41626704-41627238	K562	blood:	n/a	n/a
14	JUN	chr15:41626765-41627165	K562	blood:	n/a	n/a
15	JUND	chr15:41626788-41627026	K562	blood:	n/a	n/a
16	KAP1	chr15:41626194-41627237	HEK293	kidney:	n/a	n/a
17	MAX	chr15:41626837-41627117	K562	blood:	n/a	n/a
18	MAZ	chr15:41626878-41626994	K562	blood:	n/a	n/a
19	MYC	chr15:41626774-41627031	K562	blood:	n/a	n/a
20	NR2F2	chr15:41626605-41627092	K562	blood:	n/a	n/a
21	NR2F2	chr15:41626415-41627198	K562	blood:	n/a	n/a
22	PML	chr15:41626563-41627115	K562	blood:	n/a	n/a
23	POLR2A	chr15:41626621-41627097	K562	blood:	n/a	n/a
24	POLR2A	chr15:41626561-41627147	GM12878	blood:	n/a	n/a
25	POLR2A	chr15:41626542-41627048	K562	blood:	n/a	n/a
26	POLR2A	chr15:41626641-41627098	K562	blood:	n/a	n/a
27	POLR2A	chr15:41626744-41627010	HepG2	liver:	n/a	n/a
28	RCOR1	chr15:41626577-41627070	K562	blood:	n/a	n/a
29	RCOR1	chr15:41626708-41626917	K562	blood:	n/a	n/a
30	STAT5A	chr15:41626604-41627169	K562	blood:	n/a	chr15:41626755-41626763
31	TAL1	chr15:41626652-41627222	K562	blood:	n/a	n/a
32	TBL1XR1	chr15:41626682-41627010	K562	blood:	n/a	n/a
33	TBP	chr15:41626586-41626928	K562	blood:	n/a	n/a
34	TEAD4	chr15:41626516-41627112	K562	blood:	n/a	n/a
35	TEAD4	chr15:41626554-41627259	K562	blood:	n/a	n/a
36	WRNIP1	chr15:41626572-41626983	GM12878	blood:	n/a	n/a
37	ZMIZ1	chr15:41626758-41626970	K562	blood:	n/a	n/a
38	ZNF263	chr15:41626703-41627165	HEK293-T-REx	kidney:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:41573497..41577986-chr15:41624362..41627823,9	K562	blood:
2	chr15:41625051..41627000-chr15:41692954..41695637,2	K562	blood:
3	chr15:41623109..41624716-chr15:41626647..41628687,2	K562	blood:
4	chr15:41575029..41577348-chr15:41624329..41626974,5	K562	blood:

No data

Variant related genes	Relation type
OIP5	TF binding region
ENSG00000247556	chromatin interactions
ENSG00000104147	chromatin interactions
ENSG00000137806	chromatin interactions

Extended variants
information (count: 2 )
Associated
traits (count: 70 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3034611	chr15:41626903-41626904	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs59299220	chr15:41626904-41626905	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
HDAC8	0	CNVD
NIPBL	0	CNVD
RAD21	0	CNVD
SMC1A	0	CNVD
SMC3	0	CNVD
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Angelman syndrome	16183798	CNVD
Acute lymphoblastic leukemia	20067559	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
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Cancer	21129771	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21045282	CNVD
Breast cancer	22032731	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelofibrosis	22110671	CNVD
Maculopathy	20981449	CNVD
Gastric adenocarcinoma	19115996	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41623000-41627200	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr15:41623000-41627200	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr15:41623000-41627200	Active TSS	A549	lung
4	chr15:41623000-41627400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr15:41623400-41627000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr15:41623400-41627200	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr15:41623400-41627200	Active TSS	H1 Cell Line	embryonic stem cell
8	chr15:41623400-41627400	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr15:41623600-41627000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr15:41623600-41627000	Active TSS	H9 Cell Line	embryonic stem cell
11	chr15:41623600-41627200	Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr15:41623600-41627200	Active TSS	Thymus	Thymus
13	chr15:41623600-41627200	Active TSS	Hela-S3	cervix
14	chr15:41623800-41627200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr15:41623800-41627200	Active TSS	NHDF-Ad	bronchial
16	chr15:41623800-41627400	Active TSS	GM12878-XiMat	blood
17	chr15:41623800-41627400	Active TSS	K562	blood
18	chr15:41624000-41627200	Active TSS	iPS-18 Cell Line	embryonic stem cell
19	chr15:41624000-41627400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr15:41624200-41627000	Active TSS	Fetal Lung	lung
21	chr15:41624200-41627200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr15:41624200-41627200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr15:41624200-41627200	Active TSS	HSMM	muscle
24	chr15:41624200-41627400	Active TSS	Muscle Satellite Cultured Cells	--
25	chr15:41624400-41627000	Active TSS	Fetal Brain Female	brain
26	chr15:41624400-41627000	Active TSS	NH-A	brain
27	chr15:41625200-41627000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr15:41625400-41670200	Weak transcription	Gastric	stomach
29	chr15:41625600-41627200	Active TSS	Brain Germinal Matrix	brain
30	chr15:41625600-41659200	Weak transcription	Lung	lung
31	chr15:41625800-41627000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
32	chr15:41625800-41665800	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr15:41625800-41694200	Weak transcription	Small Intestine	intestine
34	chr15:41626000-41627200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr15:41626000-41642000	Weak transcription	Ovary	ovary
36	chr15:41626000-41665200	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr15:41626200-41627000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr15:41626200-41627000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr15:41626200-41627000	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr15:41626200-41627000	Enhancers	Primary neutrophils fromperipheralblood	blood
41	chr15:41626200-41627000	Active TSS	Duodenum Mucosa	Duodenum
42	chr15:41626200-41627000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr15:41626200-41627000	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr15:41626200-41627200	Enhancers	Primary B cells from peripheral blood	blood
45	chr15:41626200-41627200	Enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr15:41626200-41627600	Weak transcription	Stomach Mucosa	stomach
47	chr15:41626200-41629800	Weak transcription	Fetal Intestine Large	intestine
48	chr15:41626200-41632000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr15:41626200-41633600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr15:41626200-41640600	Weak transcription	Skeletal Muscle Male	skeletal muscle

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