Variant report

Variant	esv1803117
Chromosome Location	chr15:43484201-43487742
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	MAFF	chr15:43485932-43486282	HepG2	liver:	n/a	chr15:43486101-43486115 chr15:43486102-43486120
2	MAFF	chr15:43485974-43486243	K562	blood:	n/a	chr15:43486101-43486115 chr15:43486102-43486120
3	MAFK	chr15:43486077-43486205	H1-hESC	embryonic stem cell:	n/a	chr15:43486098-43486118 chr15:43486101-43486115 chr15:43486100-43486116
4	MAFK	chr15:43486017-43486191	HepG2	liver:	n/a	chr15:43486098-43486118 chr15:43486101-43486115 chr15:43486100-43486116
5	MAFK	chr15:43485945-43486274	HepG2	liver:	n/a	chr15:43486098-43486118 chr15:43486101-43486115 chr15:43486100-43486116
6	MAFK	chr15:43485964-43486257	Hela-S3	cervix:	n/a	chr15:43486098-43486118 chr15:43486101-43486115 chr15:43486100-43486116
7	MAFK	chr15:43485944-43486265	IMR90	lung:	n/a	chr15:43486098-43486118 chr15:43486101-43486115 chr15:43486100-43486116
8	MAFK	chr15:43485906-43486201	K562	blood:	n/a	chr15:43486098-43486118 chr15:43486101-43486115 chr15:43486100-43486116
9	POLR2A	chr15:43484514-43485007	PBDE	blood:	n/a	n/a
10	POLR2A	chr15:43485722-43485738	GM12878	blood:	n/a	n/a
11	POLR2A	chr15:43485076-43485102	A549	lung:	n/a	n/a
12	POLR2A	chr15:43486770-43487410	PBDE	blood:	n/a	n/a
13	SPI1	chr15:43484591-43484824	GM12891	blood:	n/a	n/a
14	USF1	chr15:43486752-43487105	H1-hESC	embryonic stem cell:	n/a	n/a
15	USF1	chr15:43486708-43487154	HCT-116	colon:	n/a	n/a
16	USF1	chr15:43486813-43487055	SK-N-SH_RA	brain:	n/a	n/a
17	ZNF384	chr15:43485471-43485729	GM12878	blood:	n/a	n/a
18	ZNF384	chr15:43486194-43486330	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:43478839..43481750-chr15:43486043..43488157,2	K562	blood:
2	chr15:43484282..43486298-chr15:43511798..43513539,2	K562	blood:
3	chr15:43476228..43478017-chr15:43486633..43489547,2	K562	blood:
4	chr15:43476179..43479249-chr15:43481666..43485060,6	K562	blood:
5	chr15:43486542..43488730-chr15:43494665..43496385,2	K562	blood:

No.	miRNA target gene	miRNA name	Chromosome Location
1	CCNDBP1	hsa-miR-9-5p	chr15:43487727-43487748
2	CCNDBP1	hsa-miR-9-5p	chr15:43487162-43487181
3	CCNDBP1	hsa-miR-26b-5p	chr15:43486631-43486651
4	CCNDBP1	hsa-miR-9-5p	chr15:43487174-43487181

Variant related genes	Relation type
CCNDBP1	TF binding region
ENSG00000261687	chromatin interactions
ENSG00000166946	chromatin interactions
ENSG00000166947	chromatin interactions

Extended variants
information (count: 148 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:148 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1973751	chr15:43484201-43484202	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs559461591	chr15:43484229-43484230	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs147991321	chr15:43484237-43484238	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs551590532	chr15:43484355-43484356	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs565462475	chr15:43484361-43484362	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs530979971	chr15:43484449-43484450	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs374032912	chr15:43484450-43484451	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs567814422	chr15:43484486-43484487	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs367869392	chr15:43484590-43484591	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs28418723	chr15:43484628-43484629	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs113848360	chr15:43484673-43484674	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs550714077	chr15:43484692-43484693	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs141625922	chr15:43484733-43484734	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs150598689	chr15:43484734-43484735	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs558504150	chr15:43484764-43484765	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs575410044	chr15:43484782-43484783	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs537597664	chr15:43484861-43484862	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs138628237	chr15:43484880-43484881	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs372064198	chr15:43484902-43484903	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs574382235	chr15:43484909-43484910	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs201167341	chr15:43484913-43484914	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs376350903	chr15:43484954-43484955	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs368094476	chr15:43484964-43484965	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs371951443	chr15:43484968-43484969	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs552930898	chr15:43484989-43484990	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs140520048	chr15:43484990-43484991	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs545501646	chr15:43484992-43484993	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs567783540	chr15:43484993-43484994	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs531135080	chr15:43485014-43485015	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs544437058	chr15:43485040-43485041	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs372845366	chr15:43485071-43485072	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs377212230	chr15:43485072-43485073	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs546646290	chr15:43485096-43485097	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs115236070	chr15:43485126-43485127	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs532110235	chr15:43485140-43485141	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs552254029	chr15:43485145-43485146	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs141771573	chr15:43485146-43485147	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs554465427	chr15:43485158-43485159	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs529957326	chr15:43485166-43485167	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs185723129	chr15:43485210-43485211	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs57789693	chr15:43485238-43485239	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs370752873	chr15:43485280-43485281	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs374748896	chr15:43485281-43485282	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs553617841	chr15:43485285-43485286	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs146230155	chr15:43485294-43485295	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs558467171	chr15:43485302-43485303	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs111530374	chr15:43485320-43485321	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs189798377	chr15:43485392-43485393	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs559015728	chr15:43485395-43485396	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs864844	chr15:43485441-43485442	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
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
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
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Pancreatic cancer	17952125	CNVD
Intellectual disability	21811512	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:256 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43478600-43489000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr15:43478600-43489600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr15:43478600-43496200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr15:43478800-43486800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr15:43478800-43487000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr15:43478800-43494000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr15:43479000-43488600	Weak transcription	Fetal Kidney	kidney
8	chr15:43479400-43484800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr15:43479600-43484800	Weak transcription	HepG2	liver
10	chr15:43480200-43489800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr15:43480200-43490000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr15:43480200-43490000	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr15:43480200-43490000	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr15:43480200-43490400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr15:43480400-43484400	Weak transcription	Stomach Mucosa	stomach
16	chr15:43480400-43486600	Strong transcription	NHDF-Ad	bronchial
17	chr15:43480400-43487200	Strong transcription	Primary T cells from cord blood	blood
18	chr15:43480400-43489800	Strong transcription	Placenta	Placenta
19	chr15:43480400-43490200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr15:43480400-43491200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr15:43480400-43491400	Strong transcription	Primary neutrophils fromperipheralblood	blood
22	chr15:43480600-43489800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
23	chr15:43480600-43490400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr15:43480800-43484400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr15:43480800-43486000	Strong transcription	Fetal Brain Female	brain
26	chr15:43480800-43489200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr15:43480800-43489800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr15:43480800-43490200	Strong transcription	Primary B cells from peripheral blood	blood
29	chr15:43480800-43491400	Strong transcription	Duodenum Mucosa	Duodenum
30	chr15:43481000-43487400	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr15:43481000-43490400	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr15:43481000-43490600	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr15:43481200-43485600	Strong transcription	Fetal Intestine Large	intestine
34	chr15:43481200-43485800	Strong transcription	Fetal Muscle Leg	muscle
35	chr15:43481200-43487000	Strong transcription	Muscle Satellite Cultured Cells	--
36	chr15:43481200-43488200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr15:43481200-43489800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr15:43481200-43490000	Strong transcription	Thymus	Thymus
39	chr15:43481400-43485400	Strong transcription	Brain Angular Gyrus	brain
40	chr15:43481400-43485400	Strong transcription	Ovary	ovary
41	chr15:43481400-43485600	Strong transcription	Primary hematopoietic stem cells	blood
42	chr15:43481400-43485600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr15:43481400-43485600	Strong transcription	Brain Cingulate Gyrus	brain
44	chr15:43481400-43485600	Strong transcription	Brain Hippocampus Middle	brain
45	chr15:43481400-43485800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
46	chr15:43481400-43486000	Strong transcription	NHLF	lung
47	chr15:43481400-43486400	Strong transcription	Brain Inferior Temporal Lobe	brain
48	chr15:43481400-43486800	Strong transcription	Primary T killer memory cells from peripheral blood	blood
49	chr15:43481400-43487000	Strong transcription	Brain Germinal Matrix	brain
50	chr15:43481400-43487000	Strong transcription	Osteobl	bone

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