Variant report

Variant	rs11059724
Chromosome Location	chr12:123235978-123235979
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:26)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:26 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPD	chr12:123235693-123236131	K562	blood:	n/a	n/a
2	POLR2A	chr12:123235761-123236125	K562	blood:	n/a	n/a
3	POLR2A	chr12:123235826-123236306	H1-hESC	embryonic stem cell:	n/a	n/a
4	TEAD4	chr12:123235624-123236125	K562	blood:	n/a	n/a
5	NR2F2	chr12:123235621-123236248	K562	blood:	n/a	n/a
6	POLR2A	chr12:123235922-123236281	H1-hESC	embryonic stem cell:	n/a	n/a
7	TAF1	chr12:123235948-123236284	H1-hESC	embryonic stem cell:	n/a	n/a
8	MAX	chr12:123235846-123236187	K562	blood:	n/a	n/a
9	POLR2A	chr12:123235900-123236309	H1-hESC	embryonic stem cell:	n/a	n/a
10	EP300	chr12:123235737-123236098	K562	blood:	n/a	n/a
11	TRIM28	chr12:123235639-123236217	K562	blood:	n/a	n/a
12	RCOR1	chr12:123235754-123235986	K562	blood:	n/a	n/a
13	SPI1	chr12:123235760-123236045	K562	blood:	n/a	n/a
14	STAT5A	chr12:123235683-123236138	K562	blood:	n/a	n/a
15	POLR2A	chr12:123235761-123236002	K562	blood:	n/a	n/a
16	POLR2A	chr12:123235620-123236494	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr12:123235882-123236338	Raji	blood:	n/a	n/a
18	NANOG	chr12:123235968-123236220	H1-hESC	embryonic stem cell:	n/a	n/a
19	REST	chr12:123235757-123236063	K562	blood:	n/a	n/a
20	NR2F2	chr12:123235735-123236348	K562	blood:	n/a	n/a
21	POLR2A	chr12:123235749-123236283	H1-hESC	embryonic stem cell:	n/a	n/a
22	TEAD4	chr12:123235608-123236133	K562	blood:	n/a	n/a
23	TAL1	chr12:123235722-123236146	K562	blood:	n/a	n/a
24	SPI1	chr12:123235768-123236019	K562	blood:	n/a	n/a
25	GATA2	chr12:123235649-123236214	K562	blood:	n/a	n/a
26	TAF1	chr12:123235883-123236365	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:123235580..123237478-chr12:123432464..123434294,2	MCF-7	breast:
2	chr12:123214031..123216827-chr12:123235538..123237939,3	MCF-7	breast:
3	chr12:123120054..123123996-chr12:123234682..123237075,4	MCF-7	breast:
4	chr12:122883132..122886264-chr12:123235650..123239708,3	MCF-7	breast:
5	chr12:123212708..123217136-chr12:123232023..123237517,8	MCF-7	breast:
6	chr12:122982981..122986123-chr12:123234906..123238729,4	MCF-7	breast:
7	chr12:123209450..123212113-chr12:123234197..123236734,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000256044	TF binding region
DENR	TF binding region
ENSG00000196917	Chromatin interaction
ENSG00000150967	Chromatin interaction
ENSG00000130779	Chromatin interaction
ENSG00000033030	Chromatin interaction
ENSG00000270134	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10466883	0.93[ASN][1000 genomes]
rs10466884	0.94[ASN][1000 genomes]
rs11059711	0.94[ASN][1000 genomes]
rs11059834	0.92[ASN][1000 genomes]
rs11059932	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11059953	0.89[ASN][1000 genomes]
rs11059954	0.91[ASN][1000 genomes]
rs12302287	0.92[ASN][1000 genomes]
rs12303150	0.90[ASN][1000 genomes]
rs12303270	0.92[ASN][1000 genomes]
rs12303951	0.89[ASN][1000 genomes]
rs12305822	0.89[ASN][1000 genomes]
rs12307038	0.92[ASN][1000 genomes]
rs12310386	0.94[ASN][1000 genomes]
rs12310901	0.92[ASN][1000 genomes]
rs12312837	0.92[ASN][1000 genomes]
rs12316263	0.94[ASN][1000 genomes]
rs12319160	0.89[ASN][1000 genomes]
rs12321100	0.88[ASN][1000 genomes]
rs12321556	0.94[ASN][1000 genomes]
rs1260120	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1671679	0.91[ASN][1000 genomes]
rs1671688	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1696320	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2253504	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2649902	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2936730	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3817095	0.94[ASN][1000 genomes]
rs57366988	0.94[ASN][1000 genomes]
rs60469279	0.91[ASN][1000 genomes]
rs61176973	0.92[ASN][1000 genomes]
rs6489240	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs652533	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs701484	0.94[ASN][1000 genomes]
rs7138436	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7311386	0.91[ASN][1000 genomes]
rs7486414	0.91[ASN][1000 genomes]
rs7966971	0.92[ASN][1000 genomes]
rs839363	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9645762	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][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	nsv899571	chr12:123215734-123363562	Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123228800-123236800	Weak transcription	Right Atrium	heart
2	chr12:123229200-123236000	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr12:123232400-123236400	Weak transcription	Esophagus	oesophagus
4	chr12:123232600-123236600	Weak transcription	HMEC	breast
5	chr12:123232800-123236600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:123233200-123236600	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr12:123233800-123236800	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr12:123234200-123236800	Enhancers	HepG2	liver
9	chr12:123234200-123236800	Enhancers	K562	blood
10	chr12:123234600-123238200	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr12:123234800-123236400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr12:123234800-123236400	Weak transcription	A549	lung
13	chr12:123235000-123236600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr12:123235200-123236000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr12:123235200-123236600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr12:123235200-123236800	Enhancers	Primary hematopoietic stem cells	blood
17	chr12:123235400-123236000	Enhancers	H1 Cell Line	embryonic stem cell
18	chr12:123235400-123236000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr12:123235400-123236400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr12:123235400-123236600	Enhancers	Primary B cells from cord blood	blood
21	chr12:123235400-123236800	Enhancers	Primary B cells from peripheral blood	blood
22	chr12:123235400-123236800	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr12:123235400-123236800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr12:123235400-123236800	Enhancers	GM12878-XiMat	blood
25	chr12:123235400-123237000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr12:123235600-123236000	Enhancers	Primary T cells from cord blood	blood
27	chr12:123235600-123236800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr12:123235600-123238200	Active TSS	H9 Cell Line	embryonic stem cell
29	chr12:123235600-123238200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr12:123235600-123238200	Active TSS	HUES6 Cell Line	embryonic stem cell
31	chr12:123235600-123238200	Active TSS	HUES64 Cell Line	embryonic stem cell
32	chr12:123235600-123238200	Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chr12:123235800-123236000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr12:123235800-123236000	Active TSS	iPS-15b Cell Line	embryonic stem cell
35	chr12:123235800-123236000	Enhancers	Fetal Kidney	kidney
36	chr12:123235800-123236200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr12:123235800-123236400	Enhancers	Fetal Intestine Large	intestine
38	chr12:123235800-123236600	Enhancers	NHEK	skin
39	chr12:123235800-123238000	Active TSS	HUES48 Cell Line	embryonic stem cell
40	chr12:123235800-123238000	Active TSS	iPS-18 Cell Line	embryonic stem cell

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