Variant report

Variant	rs59468184
Chromosome Location	chr11:34448475-34448476
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	POLR2A	chr11:34448290-34448703	SK-N-SH	brain:	n/a	n/a
2	MAX	chr11:34448246-34448696	SK-N-SH	brain:	n/a	n/a
3	TCF12	chr11:34448029-34449444	SK-N-SH	brain:	n/a	n/a
4	TEAD4	chr11:34448260-34448865	SK-N-SH	brain:	n/a	n/a
5	GATA2	chr11:34448213-34448748	SH-SY5Y	brain:	n/a	n/a
6	TEAD4	chr11:34448450-34449514	K562	blood:	n/a	n/a
7	RAD21	chr11:34448211-34448686	SK-N-SH_RA	brain:	n/a	chr11:34448362-34448374
8	MAX	chr11:34448332-34449262	SK-N-SH	brain:	n/a	n/a
9	GATA2	chr11:34448474-34448747	K562	blood:	n/a	n/a
10	POLR2A	chr11:34448274-34448810	SK-N-SH	brain:	n/a	n/a
11	FOSL2	chr11:34448274-34449355	SK-N-SH	brain:	n/a	n/a
12	GATA1	chr11:34448425-34449530	PBDE	blood:	n/a	chr11:34449316-34449323
13	RAD21	chr11:34448232-34448767	SK-N-SH_RA	brain:	n/a	chr11:34448362-34448374
14	GATA3	chr11:34448009-34449452	SK-N-SH	brain:	n/a	chr11:34449316-34449323
15	EP300	chr11:34448392-34449452	A549	lung:	n/a	n/a
16	NFIC	chr11:34448121-34449260	SK-N-SH	brain:	n/a	n/a
17	FOXP2	chr11:34448267-34448783	SK-N-MC	brain:	n/a	n/a
18	NFIC	chr11:34448269-34448769	SK-N-SH	brain:	n/a	n/a
19	HDAC2	chr11:34448469-34449164	HepG2	liver:	n/a	chr11:34448739-34448753
20	SP1	chr11:34448475-34449509	A549	lung:	n/a	chr11:34448992-34449006
21	TCF12	chr11:34448225-34449497	A549	lung:	n/a	n/a
22	GATA3	chr11:34448418-34449508	A549	lung:	n/a	chr11:34449316-34449323
23	CBX3	chr11:34448429-34449270	K562	blood:	n/a	n/a
24	EP300	chr11:34448274-34449323	SK-N-SH	brain:	n/a	n/a
25	POLR2A	chr11:34448336-34448693	PFSK-1	brain:	n/a	n/a
26	GATA3	chr11:34448226-34448718	SH-SY5Y	brain:	n/a	n/a
27	YY1	chr11:34448274-34448740	SK-N-SH_RA	brain:	n/a	n/a
28	PBX3	chr11:34448294-34449414	SK-N-SH	brain:	n/a	n/a
29	GATA3	chr11:34448178-34449159	SK-N-SH	brain:	n/a	n/a
30	EP300	chr11:34448259-34448780	SK-N-SH_RA	brain:	n/a	n/a
31	PBX3	chr11:34448334-34449351	SK-N-SH	brain:	n/a	n/a
32	TCF12	chr11:34448006-34449391	SK-N-SH	brain:	n/a	n/a
33	POLR2A	chr11:34448200-34448751	SK-N-MC	brain:	n/a	n/a
34	YY1	chr11:34448277-34448673	SK-N-SH_RA	brain:	n/a	n/a
35	CEBPB	chr11:34448415-34449391	A549	lung:	n/a	chr11:34448790-34448801
36	STAT5A	chr11:34448445-34448806	K562	blood:	n/a	chr11:34448479-34448487
37	TAL1	chr11:34448455-34449464	K562	blood:	n/a	n/a
38	EP300	chr11:34448235-34448829	SK-N-SH_RA	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:34447027..34448601-chr11:34452775..34454471,2	MCF-7	breast:
2	chr11:34444429..34446350-chr11:34447705..34449536,2	K562	blood:
3	chr11:34443552..34446459-chr11:34446644..34449623,2	MCF-7	breast:
4	chr11:34447883..34451792-chr11:34456049..34462661,10	K562	blood:

Variant related genes	Relation type
CIR1P3	TF binding region
ENSG00000121691	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11032656	0.94[EUR][1000 genomes]
rs11032672	0.97[EUR][1000 genomes]
rs11032702	0.97[EUR][1000 genomes]
rs1107573	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12269988	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12272630	0.97[EUR][1000 genomes]
rs12273124	0.97[EUR][1000 genomes]
rs12275712	0.81[EUR][1000 genomes]
rs12285026	0.97[EUR][1000 genomes]
rs12285064	0.97[EUR][1000 genomes]
rs12288793	0.97[EUR][1000 genomes]
rs12293745	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12295136	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16925514	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17883208	0.92[EUR][1000 genomes]
rs17884086	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs57360584	0.97[EUR][1000 genomes]
rs58817388	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7114869	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7121907	0.97[EUR][1000 genomes]
rs7125892	0.95[EUR][1000 genomes]
rs73436768	0.97[EUR][1000 genomes]
rs7926613	0.84[EUR][1000 genomes]
rs9282626	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897205	chr11:34248229-34507213	Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv897207	chr11:34253683-34621004	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv897208	chr11:34257064-34562247	Strong transcription Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv897209	chr11:34309519-34548906	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv832114	chr11:34424428-34607851	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34438200-34448600	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr11:34443400-34450000	Enhancers	Primary hematopoietic stem cells	blood
3	chr11:34443800-34460000	Weak transcription	Esophagus	oesophagus
4	chr11:34445000-34449400	Enhancers	HMEC	breast
5	chr11:34445400-34448600	Weak transcription	Lung	lung
6	chr11:34446600-34448600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr11:34446600-34455000	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr11:34447000-34448800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr11:34447000-34449000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr11:34447000-34449400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr11:34447200-34449600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr11:34447400-34448600	Enhancers	Hela-S3	cervix
13	chr11:34447400-34448800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr11:34447400-34449400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
15	chr11:34447400-34449400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr11:34447400-34449600	Enhancers	HSMMtube	muscle
17	chr11:34447400-34449600	Enhancers	NHEK	skin
18	chr11:34447400-34449800	Enhancers	NHLF	lung
19	chr11:34447400-34451200	Enhancers	Adipose Nuclei	Adipose
20	chr11:34447600-34448800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr11:34447600-34448800	Enhancers	K562	blood
22	chr11:34447600-34449200	Enhancers	NH-A	brain
23	chr11:34447600-34450200	Enhancers	HepG2	liver
24	chr11:34447800-34448600	Enhancers	Primary B cells from cord blood	blood
25	chr11:34447800-34450000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr11:34447800-34450000	Enhancers	Liver	Liver
27	chr11:34447800-34450600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr11:34448000-34449400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr11:34448200-34449000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr11:34448200-34449000	Flanking Active TSS	NHDF-Ad	bronchial
31	chr11:34448200-34449200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr11:34448200-34449200	Enhancers	Fetal Lung	lung
33	chr11:34448200-34449200	Enhancers	Placenta	Placenta
34	chr11:34448400-34448600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr11:34448400-34448600	Flanking Active TSS	HSMM	muscle
36	chr11:34448400-34448600	Flanking Active TSS	Osteobl	bone
37	chr11:34448400-34449000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
38	chr11:34448400-34449000	Flanking Active TSS	A549	lung
39	chr11:34448400-34451200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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