Variant report

Variant	rs56724584
Chromosome Location	chr2:86655454-86655455
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:86653403..86655819-chr2:86666546..86668232,2	K562	blood:
2	chr2:86654319..86656135-chr2:86666732..86668287,2	K562	blood:
3	chr2:86647827..86649783-chr2:86653911..86655786,2	K562	blood:
4	chr2:86647827..86650368-chr2:86653395..86655786,3	K562	blood:
5	chr2:86655274..86657189-chr2:86659323..86661688,2	K562	blood:
6	chr2:86654271..86657826-chr2:86665833..86668701,3	MCF-7	breast:
7	chr2:86651643..86655603-chr2:86667304..86670625,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115548	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1033287	1.00[ASN][1000 genomes]
rs10865482	1.00[ASN][1000 genomes]
rs11127035	1.00[ASN][1000 genomes]
rs11127036	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11127037	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11127038	1.00[ASN][1000 genomes]
rs11679490	1.00[ASN][1000 genomes]
rs11682587	0.82[EUR][1000 genomes]
rs11691143	1.00[ASN][1000 genomes]
rs11889193	1.00[ASN][1000 genomes]
rs11889395	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11890686	1.00[ASN][1000 genomes]
rs11894243	1.00[ASN][1000 genomes]
rs11894251	1.00[ASN][1000 genomes]
rs11894282	1.00[ASN][1000 genomes]
rs11899520	1.00[ASN][1000 genomes]
rs11899750	1.00[ASN][1000 genomes]
rs1401314	0.98[ASN][1000 genomes]
rs1518809	1.00[ASN][1000 genomes]
rs17027251	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17027257	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3088046	0.88[EUR][1000 genomes]
rs56013658	1.00[ASN][1000 genomes]
rs56300462	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57344367	1.00[ASN][1000 genomes]
rs59305606	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6547686	1.00[ASN][1000 genomes]
rs66912486	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6726948	1.00[ASN][1000 genomes]
rs6735640	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6737677	0.85[ASN][1000 genomes]
rs7598470	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3412938	chr2:86370969-86867936	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
2	nsv532724	chr2:86622295-87086407	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 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	chr2:86654000-86664400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:86655000-86656000	Weak transcription	Fetal Intestine Small	intestine

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