Variant report

Variant	rs12274820
Chromosome Location	chr11:59439040-59439041
allele	A/C
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	chr11:59439020-59439220	GM12878	blood:	n/a	n/a
2	RUNX3	chr11:59438953-59439296	GM12878	blood:	n/a	n/a
3	MEF2A	chr11:59438978-59439283	GM12878	blood:	n/a	n/a
4	MEF2C	chr11:59438937-59439379	GM12878	blood:	n/a	n/a
5	RUNX3	chr11:59438985-59439309	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:59438558..59440197-chr11:59521264..59524002,2	K562	blood:
2	chr11:59436881..59439475-chr17:40074254..40076728,2	MCF-7	breast:

Variant related genes	Relation type
PATL1	TF binding region
ENSG00000255355	TF binding region
ENSG00000166900	Chromatin interaction
ENSG00000131473	Chromatin interaction
ENSG00000254477	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11230019	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11230036	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12271110	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12272999	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12287696	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12291415	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17154005	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17154053	0.80[EUR][1000 genomes]
rs17508845	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17509520	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17592880	1.00[ASN][1000 genomes]
rs17593682	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17593836	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17594827	0.80[EUR][1000 genomes]
rs57397608	1.00[ASN][1000 genomes]
rs6591540	1.00[ASN][1000 genomes]
rs7101580	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7107183	1.00[ASN][1000 genomes]
rs7112355	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7118051	1.00[ASN][1000 genomes]
rs7130130	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7924849	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7929816	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7948041	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7948635	1.00[ASN][1000 genomes]
rs7952380	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs997788	0.86[EUR][1000 genomes];1.00[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	esv1802782	chr11:59383323-59448068	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:59437800-59440400	Weak transcription	GM12878-XiMat	blood
2	chr11:59438000-59439600	Enhancers	Liver	Liver
3	chr11:59438400-59439200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr11:59438600-59440400	Weak transcription	HepG2	liver
5	chr11:59438600-59441600	Weak transcription	Fetal Intestine Small	intestine
6	chr11:59439000-59439200	Enhancers	Brain Cingulate Gyrus	brain

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