Variant report

Variant	esv2760884
Chromosome Location	chr4:15759680-15776181
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:114)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:114 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr4:15773002-15773456	GM12878	blood:	n/a	n/a
2	ATF2	chr4:15767768-15768355	GM12878	blood:	n/a	n/a
3	BATF	chr4:15773003-15773428	GM12878	blood:	n/a	n/a
4	BATF	chr4:15773053-15773367	GM12878	blood:	n/a	n/a
5	BHLHE40	chr4:15767864-15768326	GM12878	blood:	n/a	n/a
6	BHLHE40	chr4:15773057-15773402	GM12878	blood:	n/a	n/a
7	CEBPB	chr4:15775571-15776153	A549	lung:	n/a	n/a
8	CEBPB	chr4:15775804-15776033	HepG2	liver:	n/a	n/a
9	CEBPB	chr4:15775603-15776240	A549	lung:	n/a	n/a
10	CEBPB	chr4:15775714-15776078	Hela-S3	cervix:	n/a	n/a
11	CEBPB	chr4:15775650-15776146	A549	lung:	n/a	n/a
12	CEBPB	chr4:15775785-15776012	IMR90	lung:	n/a	n/a
13	CHD2	chr4:15772920-15773343	GM12878	blood:	n/a	n/a
14	CREB1	chr4:15775710-15776138	A549	lung:	n/a	n/a
15	CTCF	chr4:15775560-15775710	WI-38	lung:	n/a	n/a
16	CTCF	chr4:15774180-15774330	GM12872	blood:	n/a	n/a
17	CTCF	chr4:15766640-15766790	WERI-Rb-1	eye:	n/a	n/a
18	CUX1	chr4:15774189-15774224	GM12878	blood:	n/a	n/a
19	CUX1	chr4:15773124-15773348	GM12878	blood:	n/a	n/a
20	E2F6	chr4:15775508-15776017	A549	lung:	n/a	n/a
21	EBF1	chr4:15767974-15768058	GM12878	blood:	n/a	n/a
22	EBF1	chr4:15773038-15773449	GM12878	blood:	n/a	chr4:15773192-15773203
23	EBF1	chr4:15773028-15773500	GM12878	blood:	n/a	chr4:15773192-15773203
24	EBF1	chr4:15772936-15773545	GM12878	blood:	n/a	chr4:15773192-15773203
25	EP300	chr4:15772967-15773354	GM12878	blood:	n/a	chr4:15773163-15773177
26	EP300	chr4:15775612-15776327	A549	lung:	n/a	n/a
27	EP300	chr4:15772846-15773590	GM12878	blood:	n/a	chr4:15773163-15773177
28	EP300	chr4:15775525-15776300	A549	lung:	n/a	n/a
29	EP300	chr4:15767862-15768321	GM12878	blood:	n/a	n/a
30	EP300	chr4:15773801-15773928	GM12878	blood:	n/a	n/a
31	EP300	chr4:15772924-15773412	GM12878	blood:	n/a	chr4:15773163-15773177
32	FOS	chr4:15775684-15776084	MCF10A-Er-Src	breast:	n/a	n/a
33	FOS	chr4:15775712-15776091	MCF10A-Er-Src	breast:	n/a	n/a
34	FOS	chr4:15775681-15776078	MCF10A-Er-Src	breast:	n/a	n/a
35	FOS	chr4:15775803-15775943	MCF10A-Er-Src	breast:	n/a	n/a
36	FOSL2	chr4:15775647-15776217	A549	lung:	n/a	n/a
37	FOXA1	chr4:15775754-15776267	A549	lung:	n/a	n/a
38	FOXA2	chr4:15775633-15776300	A549	lung:	n/a	n/a
39	FOXA2	chr4:15775628-15776189	A549	lung:	n/a	n/a
40	FOXM1	chr4:15772965-15773397	GM12878	blood:	n/a	n/a
41	GATA3	chr4:15775581-15776286	A549	lung:	n/a	n/a
42	IRF4	chr4:15772969-15773500	GM12878	blood:	n/a	n/a
43	MAX	chr4:15775679-15776199	Hela-S3	cervix:	n/a	n/a
44	MAX	chr4:15775504-15776110	A549	lung:	n/a	n/a
45	MAX	chr4:15775461-15776194	A549	lung:	n/a	n/a
46	MAX	chr4:15775635-15776051	Hela-S3	cervix:	n/a	n/a
47	MAX	chr4:15775532-15776177	A549	lung:	n/a	n/a
48	MAZ	chr4:15772875-15773348	GM12878	blood:	n/a	n/a
49	MTA3	chr4:15773000-15773503	GM12878	blood:	n/a	n/a
50	MTA3	chr4:15772941-15773526	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr4:15771423..15774001-chr4:15776022..15777670,2	K562	blood:
2	chr4:15771423..15774001-chr4:15776022..15777670,2	K562	blood:
3	chr4:15745915..15748047-chr4:15772262..15775120,2	MCF-7	breast:
4	chr4:15481667..15484454-chr4:15772642..15775403,2	MCF-7	breast:
5	chr4:15756091..15759053-chr4:15760303..15762164,2	K562	blood:

No data

Variant related genes	Relation type
CD38	TF binding region

Extended variants
information (count: 656 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:656 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549217673	chr4:15759684-15759685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs568920098	chr4:15759685-15759686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs28464016	chr4:15759730-15759731	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs150036845	chr4:15759735-15759736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs28520979	chr4:15759739-15759740	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs537755478	chr4:15759764-15759765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs539483302	chr4:15759767-15759768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs546305454	chr4:15759867-15759868	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs552928905	chr4:15759877-15759878	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs573222654	chr4:15759919-15759920	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs114963296	chr4:15759920-15759921	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs28660365	chr4:15759929-15759930	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs575700977	chr4:15759931-15759932	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs544785913	chr4:15759947-15759948	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs192098941	chr4:15759951-15759952	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs184492085	chr4:15759998-15759999	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs540257456	chr4:15760039-15760040	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs560158732	chr4:15760054-15760055	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs114239188	chr4:15760090-15760091	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs199686017	chr4:15760116-15760117	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs60089902	chr4:15760137-15760138	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs397992367	chr4:15760142-15760143	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs549254589	chr4:15760146-15760147	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs569131998	chr4:15760173-15760174	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs531446336	chr4:15760179-15760180	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs145226290	chr4:15760225-15760226	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs570886444	chr4:15760256-15760257	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs375371253	chr4:15760278-15760279	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs188498224	chr4:15760300-15760301	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs546604654	chr4:15760305-15760306	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs78193120	chr4:15760321-15760322	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs116768692	chr4:15760325-15760326	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs555831427	chr4:15760337-15760338	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs575882214	chr4:15760370-15760371	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs538088531	chr4:15760409-15760410	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs558306826	chr4:15760411-15760412	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs141320349	chr4:15760415-15760416	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs540291226	chr4:15760416-15760417	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs560197293	chr4:15760463-15760464	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs4257648	chr4:15760487-15760488	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs554007347	chr4:15760528-15760529	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs574155239	chr4:15760534-15760535	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs181307949	chr4:15760608-15760609	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs531919201	chr4:15760626-15760627	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs536814764	chr4:15760633-15760634	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs551310517	chr4:15760639-15760640	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs564702985	chr4:15760644-15760645	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs533259313	chr4:15760646-15760647	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs528952751	chr4:15760664-15760665	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs34921119	chr4:15760683-15760684	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:50)

Disease	PMID	Source
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:223 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:15752600-15767600	Weak transcription	Fetal Intestine Small	intestine
2	chr4:15755600-15760400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:15758600-15759800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr4:15758600-15760000	Enhancers	Primary T cells fromperipheralblood	blood
5	chr4:15758600-15760200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr4:15759000-15760000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr4:15759000-15760000	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr4:15759000-15760000	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr4:15759000-15760200	Enhancers	Primary T cells from cord blood	blood
10	chr4:15759000-15761000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr4:15759200-15759800	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr4:15759200-15759800	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr4:15759200-15765400	Weak transcription	Thymus	Thymus
14	chr4:15759200-15765600	Enhancers	Dnd41	blood
15	chr4:15759200-15766400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr4:15759200-15767800	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr4:15759400-15762800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr4:15759400-15763400	Weak transcription	Primary hematopoietic stem cells	blood
19	chr4:15759600-15762200	Weak transcription	Fetal Thymus	thymus
20	chr4:15759600-15763000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr4:15759600-15763400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr4:15759800-15762000	Strong transcription	Primary neutrophils fromperipheralblood	blood
23	chr4:15759800-15762000	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr4:15759800-15766200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr4:15760000-15767200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr4:15760000-15767400	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr4:15760200-15760600	Weak transcription	Primary T cells from cord blood	blood
28	chr4:15760200-15767200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr4:15760400-15760600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr4:15760600-15761000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr4:15760600-15761200	Enhancers	Primary T cells from cord blood	blood
32	chr4:15761000-15767200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr4:15761200-15763000	Weak transcription	Primary T cells from cord blood	blood
34	chr4:15762000-15764200	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr4:15762000-15767800	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr4:15762200-15762800	Enhancers	Fetal Thymus	thymus
37	chr4:15762800-15763800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr4:15762800-15766200	Weak transcription	Fetal Thymus	thymus
39	chr4:15763000-15763400	Enhancers	Primary T cells from cord blood	blood
40	chr4:15763000-15769800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr4:15763400-15763600	Enhancers	GM12878-XiMat	blood
42	chr4:15763400-15763800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr4:15763400-15764000	Enhancers	Primary hematopoietic stem cells	blood
44	chr4:15763400-15766400	Weak transcription	Primary T cells from cord blood	blood
45	chr4:15763600-15767000	Weak transcription	GM12878-XiMat	blood
46	chr4:15763800-15764200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr4:15763800-15766200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr4:15764000-15766200	Weak transcription	Primary hematopoietic stem cells	blood
49	chr4:15764200-15764400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr4:15764200-15764800	Strong transcription	Primary neutrophils fromperipheralblood	blood

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