Variant report

Variant	rs73224313
Chromosome Location	chr12:121347674-121347675
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	BATF	chr12:121347483-121347901	GM12878	blood:	n/a	n/a
2	ATF2	chr12:121347442-121347981	GM12878	blood:	n/a	n/a
3	BATF	chr12:121347506-121347788	GM12878	blood:	n/a	n/a
4	RUNX3	chr12:121347489-121348043	GM12878	blood:	n/a	n/a
5	NFIC	chr12:121347421-121347999	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:121341251..121344109-chr12:121345996..121349521,4	K562	blood:
2	chr12:121341147..121344429-chr12:121344566..121350516,5	K562	blood:
3	chr12:121339867..121343058-chr12:121346216..121349525,3	MCF-7	breast:

Variant related genes	Relation type
CLIC1P1	TF binding region
ENSG00000157837	Chromatin interaction

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs12313339	1.00[ASN][1000 genomes]
rs1696360	1.00[ASN][1000 genomes]
rs1971317	1.00[ASN][1000 genomes]
rs2393795	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34325588	1.00[ASN][1000 genomes]
rs3850521	1.00[ASN][1000 genomes]
rs55645249	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs55647329	1.00[ASN][1000 genomes]
rs55660034	1.00[ASN][1000 genomes]
rs55660947	1.00[ASN][1000 genomes]
rs55914930	1.00[ASN][1000 genomes]
rs55919842	1.00[ASN][1000 genomes]
rs55941696	1.00[ASN][1000 genomes]
rs55970240	1.00[ASN][1000 genomes]
rs55980956	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56163702	1.00[ASN][1000 genomes]
rs56175661	1.00[ASN][1000 genomes]
rs56178989	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56189047	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56206244	1.00[ASN][1000 genomes]
rs56280478	1.00[ASN][1000 genomes]
rs56284009	1.00[ASN][1000 genomes]
rs56391085	1.00[ASN][1000 genomes]
rs56401401	1.00[ASN][1000 genomes]
rs58235352	1.00[ASN][1000 genomes]
rs73214136	1.00[ASN][1000 genomes]
rs73214162	1.00[ASN][1000 genomes]
rs73214163	1.00[ASN][1000 genomes]
rs73214191	1.00[ASN][1000 genomes]
rs73214885	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73214888	1.00[ASN][1000 genomes]
rs73214894	1.00[ASN][1000 genomes]
rs73214896	1.00[ASN][1000 genomes]
rs73214898	0.86[AMR][1000 genomes]
rs73217009	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73217017	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73222694	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73222699	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73224303	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73224309	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73224318	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73224321	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73224323	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73224324	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73224334	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73224335	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73224338	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73224340	1.00[ASN][1000 genomes]
rs73224341	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73224342	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73225101	1.00[ASN][1000 genomes]
rs73226258	1.00[ASN][1000 genomes]
rs73226260	1.00[ASN][1000 genomes]
rs73226262	1.00[ASN][1000 genomes]
rs73226267	1.00[ASN][1000 genomes]
rs73226270	1.00[ASN][1000 genomes]
rs73226273	1.00[ASN][1000 genomes]
rs73226274	1.00[ASN][1000 genomes]
rs73226287	1.00[ASN][1000 genomes]
rs73226288	1.00[ASN][1000 genomes]
rs73226292	1.00[ASN][1000 genomes]
rs73227016	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73227022	1.00[ASN][1000 genomes]
rs73227026	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73227027	1.00[ASN][1000 genomes]
rs73227029	1.00[ASN][1000 genomes]
rs73227033	1.00[ASN][1000 genomes]
rs73227036	1.00[ASN][1000 genomes]
rs73227038	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73229118	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73229126	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73229149	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73229151	1.00[ASN][1000 genomes]
rs73229157	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73229160	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73229162	1.00[ASN][1000 genomes]
rs959400	1.00[ASN][1000 genomes]
rs9919745	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv560438	chr12:121194565-121352206	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv899559	chr12:121324727-121592689	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv560448	chr12:121341477-121364324	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv560452	chr12:121341581-121357934	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv560453	chr12:121342186-121364324	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121343000-121362800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:121346000-121352200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr12:121347000-121347800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr12:121347400-121348000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr12:121347400-121348200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr12:121347400-121348400	Enhancers	GM12878-XiMat	blood
7	chr12:121347400-121352200	Weak transcription	Esophagus	oesophagus
8	chr12:121347600-121352200	Weak transcription	Placenta	Placenta

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