Variant report

Variant	rs12032254
Chromosome Location	chr1:224070824-224070825
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:224063820..224066455-chr1:224070379..224072043,2	K562	blood:
2	chr1:224070627..224072910-chr1:224076240..224077802,2	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs12022914	0.83[ASN][1000 genomes]
rs12022920	0.83[ASN][1000 genomes]
rs12024059	0.83[ASN][1000 genomes]
rs12025911	0.97[ASN][1000 genomes]
rs12027762	0.97[ASN][1000 genomes]
rs12028843	0.83[ASN][1000 genomes]
rs12029400	1.00[ASN][1000 genomes]
rs12031089	1.00[ASN][1000 genomes]
rs12031127	1.00[ASN][1000 genomes]
rs12031539	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12031859	0.83[ASN][1000 genomes]
rs12032205	1.00[ASN][1000 genomes]
rs12032570	1.00[ASN][1000 genomes]
rs12033388	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12033399	1.00[ASN][1000 genomes]
rs12033405	1.00[ASN][1000 genomes]
rs12034120	0.85[ASN][1000 genomes]
rs12034364	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12034534	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12034737	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12034914	0.85[ASN][1000 genomes]
rs12035506	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12035610	0.90[ASN][1000 genomes]
rs12036636	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12036693	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12036717	0.85[ASN][1000 genomes]
rs12037893	0.90[ASN][1000 genomes]
rs12038665	0.83[ASN][1000 genomes]
rs12038706	0.85[ASN][1000 genomes]
rs12039721	0.85[ASN][1000 genomes]
rs12040996	0.85[ASN][1000 genomes]
rs12044652	0.85[ASN][1000 genomes]
rs12044659	0.85[ASN][1000 genomes]
rs12047342	0.85[ASN][1000 genomes]
rs12047952	0.97[ASN][1000 genomes]
rs16842259	0.83[ASN][1000 genomes]
rs1981168	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1981169	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1981170	1.00[ASN][1000 genomes]
rs28370160	0.81[ASN][1000 genomes]
rs56138032	1.00[AMR][1000 genomes]
rs60681980	0.97[ASN][1000 genomes]
rs61437308	0.83[ASN][1000 genomes]
rs9662086	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3361888	chr1:223725597-224114846	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	esv34082	chr1:223851018-224144509	Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	esv2757772	chr1:223935220-224363163	Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	esv2759000	chr1:223935220-224363163	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	esv1793921	chr1:224048131-224105965	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv1817834	chr1:224052449-224095114	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv1803377	chr1:224052449-224108920	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv522556	chr1:224061898-224075483	ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	esv1818074	chr1:224069625-224092240	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224064200-224074400	Weak transcription	K562	blood

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