Variant report

Variant	rs72718291
Chromosome Location	chr14:69545766-69545767
allele	C/T
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	EP300	chr14:69545659-69546581	A549	lung:	n/a	chr14:69545783-69545792 chr14:69546113-69546127 chr14:69545818-69545828
2	POLR2A	chr14:69545498-69546972	HUVEC	blood vessel:	n/a	n/a
3	EP300	chr14:69545636-69546750	SK-N-SH	brain:	n/a	chr14:69545783-69545792 chr14:69546113-69546127 chr14:69545818-69545828
4	TCF12	chr14:69545501-69546708	SK-N-SH	brain:	n/a	n/a
5	POLR2A	chr14:69545755-69546519	SK-N-SH	brain:	n/a	n/a
6	JUND	chr14:69545726-69546660	SK-N-SH	brain:	n/a	chr14:69545973-69545983 chr14:69545973-69545983 chr14:69545973-69545983 chr14:69545795-69545804 chr14:69545973-69545983
7	FOSL2	chr14:69545684-69546659	A549	lung:	n/a	chr14:69545973-69545983 chr14:69545973-69545983 chr14:69545973-69545983 chr14:69545795-69545804 chr14:69545973-69545983
8	MAX	chr14:69545589-69546530	A549	lung:	n/a	n/a
9	GATA3	chr14:69545599-69546664	SK-N-SH	brain:	n/a	chr14:69545859-69545869
10	TCF12	chr14:69545581-69546713	SK-N-SH	brain:	n/a	n/a
11	TEAD4	chr14:69545699-69546642	A549	lung:	n/a	n/a
12	FOXM1	chr14:69545677-69546720	ECC-1	luminal epithelium:	n/a	n/a
13	SRF	chr14:69545606-69546637	ECC-1	luminal epithelium:	n/a	n/a
14	EP300	chr14:69545570-69546745	ECC-1	luminal epithelium:	n/a	chr14:69545783-69545792 chr14:69546113-69546127 chr14:69545818-69545828
15	SP1	chr14:69545658-69546533	A549	lung:	n/a	chr14:69545793-69545802
16	GATA3	chr14:69545648-69546685	SK-N-SH	brain:	n/a	chr14:69545859-69545869
17	POLR2A	chr14:69545753-69546160	K562	blood:	n/a	n/a
18	MAX	chr14:69545486-69546550	A549	lung:	n/a	n/a
19	EP300	chr14:69545603-69546582	A549	lung:	n/a	chr14:69545783-69545792 chr14:69546113-69546127 chr14:69545818-69545828
20	SP1	chr14:69545617-69546570	A549	lung:	n/a	chr14:69545793-69545802
21	FOSL2	chr14:69545670-69546646	SK-N-SH	brain:	n/a	chr14:69545973-69545983 chr14:69545973-69545983 chr14:69545973-69545983 chr14:69545795-69545804 chr14:69545973-69545983
22	PBX3	chr14:69545644-69546570	SK-N-SH	brain:	n/a	n/a
23	TCF12	chr14:69545535-69546593	A549	lung:	n/a	n/a
24	NFIC	chr14:69545684-69546736	SK-N-SH	brain:	n/a	n/a
25	TEAD4	chr14:69545704-69546693	SK-N-SH	brain:	n/a	n/a
26	TEAD4	chr14:69545613-69546654	ECC-1	luminal epithelium:	n/a	n/a
27	CEBPB	chr14:69545438-69545796	IMR90	lung:	n/a	n/a
28	GATA3	chr14:69545584-69546795	A549	lung:	n/a	chr14:69545859-69545869
29	SRF	chr14:69545682-69546353	ECC-1	luminal epithelium:	n/a	n/a
30	FOXM1	chr14:69545664-69546750	ECC-1	luminal epithelium:	n/a	n/a
31	JUN	chr14:69545671-69546815	HUVEC	blood vessel:	n/a	chr14:69546349-69546362 chr14:69545973-69545983 chr14:69545973-69545983 chr14:69545973-69545983 chr14:69545795-69545804 chr14:69545973-69545983
32	MEF2A	chr14:69545744-69546747	SK-N-SH	brain:	n/a	n/a
33	TCF12	chr14:69545675-69546605	ECC-1	luminal epithelium:	n/a	n/a
34	MEF2A	chr14:69545735-69546759	SK-N-SH	brain:	n/a	n/a
35	JUND	chr14:69545696-69546569	SK-N-SH	brain:	n/a	chr14:69545973-69545983 chr14:69545973-69545983 chr14:69545973-69545983 chr14:69545795-69545804 chr14:69545973-69545983
36	TEAD4	chr14:69545766-69546654	ECC-1	luminal epithelium:	n/a	n/a
37	MAFK	chr14:69545597-69546501	IMR90	lung:	n/a	chr14:69545974-69545984 chr14:69546322-69546338 chr14:69545968-69545988 chr14:69546323-69546334 chr14:69545966-69545980 chr14:69545968-69545979 chr14:69546322-69546333 chr14:69545967-69545982 chr14:69545972-69545981 chr14:69546321-69546335 chr14:69545967-69545983
38	PBX3	chr14:69545661-69546534	SK-N-SH	brain:	n/a	n/a
39	GATA2	chr14:69545462-69546849	HUVEC	blood vessel:	n/a	chr14:69545859-69545869

No.	Distal block	Cell Line	Cell type
1	chr14:69543921..69546792-chr14:69547416..69549365,2	MCF-7	breast:
2	chr14:69538205..69540864-chr14:69545299..69548290,2	MCF-7	breast:
3	chr14:69545451..69547104-chr14:69553790..69555545,2	K562	blood:

Variant related genes	Relation type
DDX18P1	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11626985	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs11627004	0.93[EUR][1000 genomes]
rs11627476	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs12147222	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs1884631	0.83[ASN][1000 genomes]
rs1950712	0.83[ASN][1000 genomes]
rs2176255	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs2877521	0.83[ASN][1000 genomes]
rs2877522	0.83[ASN][1000 genomes]
rs2877523	0.83[ASN][1000 genomes]
rs3742905	0.93[EUR][1000 genomes]
rs55975366	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56097892	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56274826	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56868917	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72718286	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72718292	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72720212	0.93[EUR][1000 genomes]
rs72720218	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs72720225	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs72720241	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832823	chr14:69388853-69567638	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69518400-69557200	Weak transcription	Hela-S3	cervix
2	chr14:69519600-69546000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr14:69522400-69556400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:69522400-69564800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr14:69523600-69550800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr14:69523600-69553400	Weak transcription	Brain Angular Gyrus	brain
7	chr14:69523600-69556400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr14:69524000-69557600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr14:69524800-69556600	Weak transcription	Fetal Brain Male	brain
10	chr14:69527000-69545800	Weak transcription	Psoas Muscle	Psoas
11	chr14:69527000-69558200	Weak transcription	Esophagus	oesophagus
12	chr14:69528600-69547000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr14:69528600-69547800	Weak transcription	Brain Cingulate Gyrus	brain
14	chr14:69528600-69550600	Weak transcription	Spleen	Spleen
15	chr14:69528600-69560200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr14:69528800-69550600	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr14:69529600-69545800	Weak transcription	Small Intestine	intestine
18	chr14:69535600-69565200	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr14:69536000-69553200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr14:69536200-69556400	Weak transcription	K562	blood
21	chr14:69540000-69551400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr14:69540400-69560600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr14:69540800-69546000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr14:69540800-69549600	Weak transcription	Ovary	ovary
25	chr14:69540800-69551600	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr14:69541000-69550800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr14:69541000-69556200	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr14:69541000-69556400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr14:69541200-69550200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr14:69541400-69547800	Weak transcription	Brain Hippocampus Middle	brain
31	chr14:69541400-69548000	Weak transcription	HepG2	liver
32	chr14:69541400-69549200	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr14:69541400-69553600	Weak transcription	Brain Substantia Nigra	brain
34	chr14:69541400-69559800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr14:69541600-69548000	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr14:69541600-69550000	Weak transcription	Colonic Mucosa	Colon
37	chr14:69541600-69556400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr14:69541800-69545800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr14:69541800-69546200	Weak transcription	GM12878-XiMat	blood
40	chr14:69541800-69549200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr14:69541800-69550800	Weak transcription	Brain Anterior Caudate	brain
42	chr14:69541800-69553800	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr14:69542000-69545800	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr14:69542000-69545800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr14:69542000-69548000	Weak transcription	Adipose Nuclei	Adipose
46	chr14:69542000-69550600	Weak transcription	Fetal Brain Female	brain
47	chr14:69542000-69553200	Weak transcription	Brain Germinal Matrix	brain
48	chr14:69542000-69554600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr14:69542200-69545800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr14:69542200-69545800	Weak transcription	Thymus	Thymus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links