Variant report

Variant	esv1820244
Chromosome Location	chr4:10044182-10047352
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	ARID3A	chr4:10046913-10047474	HepG2	liver:	n/a	n/a
2	CBX3	chr4:10047117-10047557	HCT-116	colon:	n/a	n/a
3	CBX3	chr4:10044299-10044537	K562	blood:	n/a	n/a
4	CBX3	chr4:10046976-10047593	HCT-116	colon:	n/a	n/a
5	CBX3	chr4:10044228-10044589	K562	blood:	n/a	n/a
6	CEBPB	chr4:10046447-10046699	K562	blood:	n/a	chr4:10046600-10046611
7	CEBPB	chr4:10046434-10046732	IMR90	lung:	n/a	chr4:10046600-10046611
8	CEBPB	chr4:10047036-10047675	HCT-116	colon:	n/a	n/a
9	CEBPB	chr4:10046988-10047606	HCT-116	colon:	n/a	n/a
10	CEBPB	chr4:10047018-10047390	HepG2	liver:	n/a	n/a
11	CEBPB	chr4:10046441-10046730	A549	lung:	n/a	chr4:10046600-10046611
12	CEBPB	chr4:10047086-10047402	A549	lung:	n/a	n/a
13	CEBPB	chr4:10046448-10046748	HepG2	liver:	n/a	chr4:10046600-10046611
14	CTCF	chr4:10046100-10046250	NHEK	skin:	n/a	n/a
15	CTCF	chr4:10046332-10046370	Lung_OC	lung:	n/a	n/a
16	EP300	chr4:10046972-10047549	A549	lung:	n/a	chr4:10047072-10047082
17	EP300	chr4:10047110-10047496	HepG2	liver:	n/a	n/a
18	EP300	chr4:10046905-10047580	HepG2	liver:	n/a	chr4:10047072-10047082
19	EP300	chr4:10047030-10047484	A549	lung:	n/a	chr4:10047072-10047082
20	FOS	chr4:10047138-10047415	MCF10A-Er-Src	breast:	n/a	n/a
21	FOS	chr4:10047088-10047487	MCF10A-Er-Src	breast:	n/a	n/a
22	FOSL1	chr4:10047039-10047597	HCT-116	colon:	n/a	n/a
23	FOSL1	chr4:10046950-10047599	HCT-116	colon:	n/a	n/a
24	FOSL2	chr4:10047011-10047536	A549	lung:	n/a	n/a
25	FOXA1	chr4:10046863-10047314	HepG2	liver:	n/a	chr4:10047073-10047085
26	FOXA1	chr4:10046869-10047481	HepG2	liver:	n/a	chr4:10047073-10047085
27	FOXA2	chr4:10046985-10047359	HepG2	liver:	n/a	chr4:10047073-10047085
28	GATA3	chr4:10047153-10047624	A549	lung:	n/a	chr4:10047495-10047504 chr4:10047488-10047509
29	GATA3	chr4:10047037-10047769	A549	lung:	n/a	chr4:10047495-10047504 chr4:10047488-10047509
30	HDAC2	chr4:10047048-10047488	HepG2	liver:	n/a	chr4:10047073-10047082
31	HNF4A	chr4:10047065-10047446	HepG2	liver:	n/a	chr4:10047139-10047147
32	HNF4G	chr4:10047056-10047473	HepG2	liver:	n/a	chr4:10047139-10047147
33	JUN	chr4:10047089-10047465	HepG2	liver:	n/a	n/a
34	JUND	chr4:10046935-10047545	HCT-116	colon:	n/a	n/a
35	JUND	chr4:10047051-10047503	HepG2	liver:	n/a	n/a
36	JUND	chr4:10046949-10047584	HCT-116	colon:	n/a	n/a
37	KAP1	chr4:10044189-10044709	K562	blood:	n/a	n/a
38	MAFF	chr4:10047161-10047388	HepG2	liver:	n/a	n/a
39	MAFK	chr4:10047188-10047456	HepG2	liver:	n/a	n/a
40	MAFK	chr4:10047160-10047436	HepG2	liver:	n/a	n/a
41	MAX	chr4:10047194-10047409	HepG2	liver:	n/a	n/a
42	MAX	chr4:10047020-10047646	HCT-116	colon:	n/a	n/a
43	MYBL2	chr4:10046998-10047478	HepG2	liver:	n/a	n/a
44	NFIC	chr4:10047120-10047447	HepG2	liver:	n/a	n/a
45	NFIC	chr4:10046982-10047453	HepG2	liver:	n/a	n/a
46	NR3C1	chr4:10047140-10047477	A549	lung:	n/a	n/a
47	POLR2A	chr4:10047056-10047508	HCT-116	colon:	n/a	n/a
48	SETDB1	chr4:10044118-10044613	U2OS	brain:	n/a	n/a
49	SIN3AK20	chr4:10047087-10047578	HCT-116	colon:	n/a	n/a
50	SIN3AK20	chr4:10047007-10047573	HCT-116	colon:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:10043237..10045316-chr4:10079369..10081759,2	K562	blood:
2	chr4:10043077..10045943-chr4:10118148..10121673,3	K562	blood:

Variant related genes	Relation type
SLC2A9	TF binding region
ENSG00000264931	chromatin interactions
ENSG00000071127	chromatin interactions

Extended variants
information (count: 140 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:140 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13144709	chr4:10044182-10044183	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs114615536	chr4:10044190-10044191	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs182428421	chr4:10044232-10044233	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs531861203	chr4:10044359-10044360	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs13110307	chr4:10044364-10044365	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs186762677	chr4:10044374-10044375	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs370237728	chr4:10044375-10044376	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs192698333	chr4:10044413-10044414	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs373199116	chr4:10044427-10044428	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs559903647	chr4:10044502-10044503	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs548567494	chr4:10044510-10044511	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs35169765	chr4:10044513-10044514	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs397795118	chr4:10044520-10044521	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs397944292	chr4:10044521-10044522	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs73229842	chr4:10044524-10044525	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs79509843	chr4:10044542-10044543	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs547723329	chr4:10044544-10044545	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs183652101	chr4:10044570-10044571	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs118020875	chr4:10044584-10044585	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs386671583	chr4:10044647-10044648	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs13122689	chr4:10044648-10044649	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs533326502	chr4:10044689-10044690	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs74412509	chr4:10044692-10044693	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs377449198	chr4:10044743-10044744	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs13129453	chr4:10044784-10044785	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs77137827	chr4:10044817-10044818	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs192835424	chr4:10044839-10044840	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs539772097	chr4:10044855-10044856	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs557967426	chr4:10044905-10044906	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs79063585	chr4:10044942-10044943	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs541513200	chr4:10044960-10044961	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs115037048	chr4:10044970-10044971	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs574885413	chr4:10044976-10044977	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs34853737	chr4:10045006-10045007	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs574843314	chr4:10045019-10045020	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs375676428	chr4:10045025-10045026	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs371027147	chr4:10045083-10045084	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs563366672	chr4:10045108-10045109	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs149821852	chr4:10045110-10045111	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs115189136	chr4:10045126-10045127	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs12504565	chr4:10045145-10045146	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs528629251	chr4:10045172-10045173	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs113481925	chr4:10045186-10045187	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs184973985	chr4:10045211-10045212	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs75561872	chr4:10045246-10045247	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs537162836	chr4:10045257-10045258	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs550284277	chr4:10045288-10045289	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs35482941	chr4:10045344-10045345	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs76195467	chr4:10045384-10045385	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs4529049	chr4:10045389-10045390	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
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
Prostate cancer	18632612	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
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Neuroblastoma	20406844	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:10035200-10047400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr4:10035200-10065600	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr4:10035400-10049000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr4:10035400-10065200	Weak transcription	Right Ventricle	heart
5	chr4:10035600-10046600	Weak transcription	Gastric	stomach
6	chr4:10035800-10068400	Weak transcription	Aorta	Aorta
7	chr4:10036200-10048600	Weak transcription	Right Atrium	heart
8	chr4:10036200-10049800	Weak transcription	Lung	lung
9	chr4:10037000-10052400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr4:10037000-10056000	Weak transcription	Brain Cingulate Gyrus	brain
11	chr4:10041000-10065000	Weak transcription	Stomach Smooth Muscle	stomach
12	chr4:10042000-10050000	Weak transcription	Pancreas	Pancrea
13	chr4:10042200-10044200	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr4:10043200-10044200	Weak transcription	Psoas Muscle	Psoas
15	chr4:10044000-10044600	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
16	chr4:10044000-10044800	ZNF genes & repeats	Primary T cells from cord blood	blood
17	chr4:10044200-10044600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
18	chr4:10044200-10044800	ZNF genes & repeats	Psoas Muscle	Psoas
19	chr4:10044400-10044600	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
20	chr4:10044400-10044800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr4:10044400-10044800	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
22	chr4:10044600-10045200	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr4:10044600-10049600	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr4:10044600-10064800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr4:10044800-10047200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr4:10044800-10048000	Weak transcription	Primary T cells from cord blood	blood
27	chr4:10044800-10056800	Weak transcription	Psoas Muscle	Psoas
28	chr4:10044800-10058800	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr4:10045200-10045600	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr4:10045200-10051200	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr4:10045600-10046600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr4:10046000-10046600	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr4:10046200-10046600	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr4:10046400-10046800	Enhancers	Primary B cells from peripheral blood	blood
35	chr4:10046400-10047400	Enhancers	HepG2	liver
36	chr4:10046600-10046800	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr4:10046600-10048400	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr4:10046800-10047000	Weak transcription	Primary B cells from peripheral blood	blood
39	chr4:10046800-10047400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
40	chr4:10046800-10048600	Enhancers	HMEC	breast
41	chr4:10046800-10048800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr4:10046800-10048800	Enhancers	NHEK	skin
43	chr4:10046800-10051800	Enhancers	Fetal Intestine Small	intestine
44	chr4:10046800-10053600	Enhancers	Fetal Intestine Large	intestine
45	chr4:10047000-10047200	Enhancers	A549	lung
46	chr4:10047000-10047400	Enhancers	Primary B cells from peripheral blood	blood
47	chr4:10047000-10047600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr4:10047000-10048000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr4:10047200-10047600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr4:10047200-10048600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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