Variant report

Variant	esv3387219
Chromosome Location	chr15:57027535-57031262
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:81)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:81 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr15:57028531-57028855	HepG2	liver:	n/a	n/a
2	ARID3A	chr15:57030012-57030301	HepG2	liver:	n/a	n/a
3	ARID3A	chr15:57029397-57029966	K562	blood:	n/a	n/a
4	ATF1	chr15:57028588-57028939	K562	blood:	n/a	n/a
5	ATF1	chr15:57029414-57030015	K562	blood:	n/a	n/a
6	BACH1	chr15:57028641-57029368	K562	blood:	n/a	n/a
7	CCNT2	chr15:57029455-57029880	K562	blood:	n/a	n/a
8	CEBPB	chr15:57029454-57029796	K562	blood:	n/a	n/a
9	CEBPB	chr15:57029461-57029796	Hela-S3	cervix:	n/a	n/a
10	CREB1	chr15:57028523-57028981	HepG2	liver:	n/a	n/a
11	CREB1	chr15:57028502-57029127	K562	blood:	n/a	n/a
12	CREB1	chr15:57028494-57029032	HepG2	liver:	n/a	n/a
13	CREB1	chr15:57028472-57028989	K562	blood:	n/a	n/a
14	CUX1	chr15:57029425-57029881	K562	blood:	n/a	n/a
15	CUX1	chr15:57030136-57030506	K562	blood:	n/a	n/a
16	E2F6	chr15:57028618-57029414	H1-hESC	embryonic stem cell:	n/a	n/a
17	EP300	chr15:57029919-57030406	HepG2	liver:	n/a	n/a
18	EP300	chr15:57029321-57030282	K562	blood:	n/a	n/a
19	FOS	chr15:57028426-57028852	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr15:57028408-57028871	MCF10A-Er-Src	breast:	n/a	n/a
21	FOS	chr15:57028387-57028798	MCF10A-Er-Src	breast:	n/a	n/a
22	FOS	chr15:57028444-57028887	MCF10A-Er-Src	breast:	n/a	n/a
23	FOSL2	chr15:57028569-57028833	HepG2	liver:	n/a	n/a
24	FOXA1	chr15:57029926-57030462	HepG2	liver:	n/a	n/a
25	FOXA1	chr15:57029869-57030453	HepG2	liver:	n/a	n/a
26	FOXA1	chr15:57029989-57030360	HepG2	liver:	n/a	n/a
27	FOXA1	chr15:57029870-57030322	HepG2	liver:	n/a	n/a
28	FOXA2	chr15:57029737-57030656	HepG2	liver:	n/a	n/a
29	FOXA2	chr15:57030014-57030384	HepG2	liver:	n/a	n/a
30	GATA2	chr15:57029466-57030016	HUVEC	blood vessel:	n/a	n/a
31	GATA2	chr15:57029449-57029958	K562	blood:	n/a	n/a
32	GATA2	chr15:57029492-57029910	K562	blood:	n/a	n/a
33	HNF4A	chr15:57030068-57030282	HepG2	liver:	n/a	n/a
34	HNF4A	chr15:57030023-57030298	HepG2	liver:	n/a	n/a
35	IRF1	chr15:57030545-57031127	K562	blood:	n/a	n/a
36	IRF1	chr15:57029136-57030171	K562	blood:	n/a	n/a
37	IRF1	chr15:57028345-57028921	K562	blood:	n/a	n/a
38	IRF1	chr15:57029483-57030002	K562	blood:	n/a	n/a
39	IRF1	chr15:57027778-57028121	K562	blood:	n/a	n/a
40	JUN	chr15:57029395-57029935	K562	blood:	n/a	n/a
41	JUN	chr15:57028558-57029051	K562	blood:	n/a	n/a
42	JUN	chr15:57029367-57029995	K562	blood:	n/a	n/a
43	JUN	chr15:57028535-57028845	HepG2	liver:	n/a	n/a
44	JUN	chr15:57028397-57028891	HUVEC	blood vessel:	n/a	n/a
45	JUND	chr15:57029426-57030070	K562	blood:	n/a	n/a
46	JUND	chr15:57028513-57028954	K562	blood:	n/a	chr15:57028695-57028706
47	JUND	chr15:57028441-57028890	HepG2	liver:	n/a	chr15:57028695-57028706
48	JUND	chr15:57028447-57028926	Hela-S3	cervix:	n/a	chr15:57028695-57028706
49	MAFF	chr15:57028527-57028815	HepG2	liver:	n/a	n/a
50	MAFF	chr15:57028583-57029073	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:57028231-57028281	SK-N-SH	brain:	n/a
2	chr15:57028231-57028281	LNCaP	prostate:	n/a
3	chr15:57028231-57028281	HCPEpiC	choroid plexus:	n/a
4	chr15:57028231-57028281	A549	lung:	n/a
5	chr15:57028231-57028281	Hela-S3	cervix:	n/a
6	chr15:57028231-57028281	Caco-2	colon:	n/a
7	chr15:57028231-57028281	GM12892	blood:	n/a
8	chr15:57028231-57028281	H1-hESC	embryonic stem cell:	embryo
9	chr15:57028231-57028281	GM12878	blood:	n/a
10	chr15:57028231-57028281	PFSK-1	brain:	n/a
11	chr15:57028231-57028281	IMR90	lung:	fetal
12	chr15:57028231-57028281	NHDF-neo	bronchial:	n/a
13	chr15:57028231-57028281	HRPEpiC	eye:	n/a
14	chr15:57028231-57028281	HCF	heart:	n/a
15	chr15:57028231-57028281	AG09309	skin:	n/a
16	chr15:57028231-57028281	HUVEC	blood vessel:	n/a
17	chr15:57028231-57028281	HCM	heart:	n/a
18	chr15:57028231-57028281	SAEC	small airway:	n/a
19	chr15:57028231-57028281	AG04449	skin:	fetal
20	chr15:57028231-57028281	MCF10A-Er-Src	breast:	n/a
21	chr15:57028231-57028281	HEEpiC	esophagus:	n/a
22	chr15:57028231-57028281	RPTEC	kidney:	n/a
23	chr15:57028231-57028281	K562	blood:	n/a
24	chr15:57028231-57028281	HEK293	kidney:	embryo
25	chr15:57028231-57028281	Hepatocyte	liver:	n/a
26	chr15:57028231-57028281	ovcar-3	ovarian:	n/a
27	chr15:57028231-57028281	HPAEpiC	pulmonary alveolar:	n/a
28	chr15:57028231-57028281	AG10803	skin:	n/a
29	chr15:57028231-57028281	BJ	skin:	n/a
30	chr15:57028231-57028281	SKMC	muscle:	n/a
31	chr15:57028231-57028281	NH-A	brain:	n/a
32	chr15:57028231-57028281	CMK	blood:	n/a
33	chr15:57028231-57028281	HRCEpiC	kidney:	n/a
34	chr15:57028231-57028281	HL-60	blood:	n/a
35	chr15:57028231-57028281	SK-N-SH_RA	brain:	n/a
36	chr15:57028231-57028281	HCT-116	colon:	n/a
37	chr15:57028231-57028281	HAEpiC	amniotic membrane:	n/a
38	chr15:57028231-57028281	AG09319	gingival:	n/a
39	chr15:57028231-57028281	HMEC	breast:	n/a
40	chr15:57028231-57028281	MCF-7	breast:	n/a
41	chr15:57028231-57028281	SK-N-MC	brain:	n/a
42	chr15:57028231-57028281	HNPCEpiC	eye:	n/a
43	chr15:57028231-57028281	NHBE	bronchial:	n/a
44	chr15:57028231-57028281	ECC-1	luminal epithelium:	n/a
45	chr15:57028231-57028281	AoSMC	blood vessel:	n/a
46	chr15:57028231-57028281	U87	brain:	n/a
47	chr15:57028231-57028281	GM19239	blood:	n/a
48	chr15:57028231-57028281	HIPEpiC	eye:	n/a
49	chr15:57028231-57028281	PrEC	prostate:	n/a
50	chr15:57028231-57028281	GM06990	blood:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr11:65271375..65272060-chr15:57029412..57030284,2	Hela-S3	cervix:
2	chr15:56534684..56537162-chr15:57025486..57027553,2	MCF-7	breast:
3	chr15:57029486..57031384-chr15:57033144..57035574,2	K562	blood:

No data

Variant related genes	Relation type
ZNF280D	TF binding region
ZNF280D	CpG island
ENSG00000181827	chromatin interactions
ENSG00000151575	chromatin interactions

Extended variants
information (count: 124 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:124 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570854506	chr15:57027540-57027541	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs375777734	chr15:57027560-57027561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs181565969	chr15:57027585-57027586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs140000627	chr15:57027624-57027625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs143613127	chr15:57027648-57027649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs561869325	chr15:57027649-57027650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs12900441	chr15:57027673-57027674	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs548107017	chr15:57027694-57027695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs575303220	chr15:57027700-57027701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs184206219	chr15:57027739-57027740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs7162654	chr15:57027817-57027818	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs35333659	chr15:57027851-57027852	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs540022558	chr15:57027862-57027863	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs115300953	chr15:57027988-57027989	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs564343860	chr15:57028016-57028017	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs528527607	chr15:57028094-57028095	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs542316605	chr15:57028097-57028098	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs561885326	chr15:57028108-57028109	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs530809636	chr15:57028130-57028131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs533233398	chr15:57028157-57028158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs550587811	chr15:57028213-57028214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs368435173	chr15:57028217-57028218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs371884623	chr15:57028232-57028233	Weak transcription Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
24	rs145744286	chr15:57028263-57028264	Weak transcription Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
25	rs148964315	chr15:57028286-57028287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs567064522	chr15:57028330-57028331	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs189916580	chr15:57028344-57028345	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs549061750	chr15:57028402-57028403	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs569002247	chr15:57028428-57028429	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs34506425	chr15:57028431-57028432	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs537827111	chr15:57028452-57028453	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs55809329	chr15:57028470-57028471	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs2161935	chr15:57028497-57028498	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs534093709	chr15:57028558-57028559	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs369741628	chr15:57028591-57028592	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs553644244	chr15:57028607-57028608	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs28756731	chr15:57028615-57028616	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs542503066	chr15:57028622-57028623	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs561823530	chr15:57028623-57028624	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs575368063	chr15:57028686-57028687	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs529411316	chr15:57028704-57028705	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs549409115	chr15:57028736-57028737	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs544166188	chr15:57028746-57028747	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs564143448	chr15:57028752-57028753	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs142632520	chr15:57028753-57028754	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs143897000	chr15:57028765-57028766	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs369106161	chr15:57028797-57028798	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs114953734	chr15:57028799-57028800	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs560670493	chr15:57028844-57028845	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs181187656	chr15:57028852-57028853	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17053054	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	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
Acute monocytic leukemia	16498392	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Gastric adenocarcinoma	19115996	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Holoprosencephaly	21359414	CNVD
Williams Syndrome	20824207	CNVD

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57026000-57028600	Weak transcription	HUVEC	blood vessel
2	chr15:57026000-57029400	Weak transcription	NH-A	brain
3	chr15:57026200-57028200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr15:57026200-57028400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr15:57026200-57028600	Weak transcription	Colon Smooth Muscle	Colon
6	chr15:57026200-57029000	Weak transcription	Small Intestine	intestine
7	chr15:57026200-57029200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr15:57026200-57029200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr15:57026200-57029200	Weak transcription	Ovary	ovary
10	chr15:57026200-57029600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr15:57026200-57032400	Weak transcription	Pancreas	Pancrea
12	chr15:57026400-57027600	Weak transcription	HepG2	liver
13	chr15:57026400-57027800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr15:57026400-57027800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr15:57026400-57028200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr15:57026400-57029000	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr15:57026400-57029200	Enhancers	K562	blood
18	chr15:57026400-57029400	Weak transcription	Fetal Kidney	kidney
19	chr15:57026800-57028200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr15:57026800-57029000	Weak transcription	Fetal Thymus	thymus
21	chr15:57026800-57030000	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr15:57027000-57027600	Weak transcription	Placenta	Placenta
23	chr15:57027000-57028600	Weak transcription	Hela-S3	cervix
24	chr15:57027600-57028800	Enhancers	Placenta	Placenta
25	chr15:57027600-57033000	Enhancers	HepG2	liver
26	chr15:57027800-57030200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr15:57027800-57032600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr15:57028200-57028800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr15:57028200-57029000	Enhancers	Sigmoid Colon	Sigmoid Colon
30	chr15:57028200-57029800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr15:57028400-57030600	Enhancers	Rectal Smooth Muscle	rectum
32	chr15:57028600-57029000	Enhancers	A549	lung
33	chr15:57028600-57030400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr15:57028600-57030400	Enhancers	Colon Smooth Muscle	Colon
35	chr15:57028600-57030600	Enhancers	HUVEC	blood vessel
36	chr15:57028600-57030800	Enhancers	Hela-S3	cervix
37	chr15:57028800-57029200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr15:57028800-57029800	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr15:57028800-57029800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr15:57028800-57030200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr15:57028800-57030200	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr15:57028800-57030200	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr15:57028800-57030400	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr15:57028800-57030600	Enhancers	Fetal Stomach	stomach
45	chr15:57028800-57031400	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr15:57029000-57029200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr15:57029000-57029200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr15:57029000-57029800	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr15:57029000-57029800	Enhancers	H1 Cell Line	embryonic stem cell
50	chr15:57029000-57029800	Enhancers	Small Intestine	intestine

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