Variant report

Variant	rs5753574
Chromosome Location	chr22:31756127-31756128
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	chr22:31741315..31744300-chr22:31752063..31756398,4	K562	blood:
2	chr22:31740831..31745371-chr22:31755753..31759335,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100105	Chromatin interaction
ENSG00000213888	Chromatin interaction

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs11089493	0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap]
rs12165685	0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12168242	0.82[ASN][1000 genomes]
rs12169794	1.00[EUR][1000 genomes]
rs12484646	1.00[EUR][1000 genomes]
rs12485004	1.00[EUR][1000 genomes]
rs12485131	1.00[EUR][1000 genomes]
rs17220418	0.88[CHB][hapmap];0.83[JPT][hapmap];0.87[ASN][1000 genomes]
rs17820958	0.91[CHB][hapmap];0.90[CHD][hapmap];0.95[JPT][hapmap];0.88[MEX][hapmap];0.97[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1859677	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2057951	0.91[CHB][hapmap];0.85[CHD][hapmap];0.95[JPT][hapmap]
rs2073856	0.95[CHB][hapmap];0.97[CHD][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs2073859	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2073860	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.81[ASN][1000 genomes]
rs2073861	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.83[ASN][1000 genomes]
rs2158779	0.97[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2240424	0.91[CHB][hapmap];0.90[CHD][hapmap];0.95[JPT][hapmap];0.88[MEX][hapmap];0.97[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2240427	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2267168	1.00[ASW][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[YRI][hapmap];0.85[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs2283882	0.90[CHB][hapmap];0.95[JPT][hapmap]
rs2295240	1.00[GIH][hapmap];1.00[EUR][1000 genomes]
rs28678535	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs2899161	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs35208364	1.00[EUR][1000 genomes]
rs3747153	0.81[ASN][1000 genomes]
rs3747154	0.81[ASN][1000 genomes]
rs3827331	1.00[EUR][1000 genomes]
rs4293639	0.82[ASN][1000 genomes]
rs4364102	1.00[EUR][1000 genomes]
rs5749222	0.90[JPT][hapmap]
rs5749225	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs5749230	1.00[EUR][1000 genomes]
rs5749235	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs5749236	0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]
rs5749240	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs5749241	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5749247	0.83[ASN][1000 genomes]
rs5749252	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs5749255	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.97[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs5749257	0.94[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs5749258	0.97[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs5749262	0.99[ASN][1000 genomes]
rs5749263	0.96[ASN][1000 genomes]
rs5753485	0.90[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];1.00[EUR][1000 genomes]
rs5753494	0.90[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap]
rs5753495	0.89[CHB][hapmap];0.93[JPT][hapmap]
rs5753509	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs5753511	0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.82[YRI][hapmap]
rs5753516	0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap]
rs5753519	0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]
rs5753525	0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes]
rs5753526	0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes]
rs5753527	0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.85[AMR][1000 genomes]
rs5753529	0.85[AMR][1000 genomes]
rs5753532	0.81[ASN][1000 genomes]
rs5753534	0.82[ASN][1000 genomes]
rs5753535	0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap]
rs5753540	0.90[CHB][hapmap];0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs5753542	0.83[ASN][1000 genomes]
rs5753554	0.83[ASN][1000 genomes]
rs5753555	0.88[ASN][1000 genomes]
rs5753556	0.91[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs5753561	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs5753566	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.97[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs5753569	0.97[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs5753571	0.97[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs5753572	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58659480	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58915086	1.00[EUR][1000 genomes]
rs5994386	0.82[ASN][1000 genomes]
rs5997921	0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap]
rs5997959	0.91[CHB][hapmap];0.83[CHD][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs713619	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs7286926	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs7292620	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs8135417	0.91[JPT][hapmap]
rs9619178	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs9621212	0.90[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap]
rs9621226	0.83[ASN][1000 genomes]
rs9621236	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834176	chr22:31682426-31864701	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
2	esv3333136	chr22:31704947-31758417	Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	esv1816779	chr22:31743711-31797094	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31744000-31762200	Weak transcription	Right Atrium	heart
2	chr22:31756000-31757000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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