Variant report

No.	Distal block	Cell Line	Cell type
1	chr12:56869475..56872257-chr12:56885841..56888811,2	K562	blood:
2	chr12:56884206..56886326-chr12:56889948..56891530,2	K562	blood:
3	chr12:56880357..56881887-chr12:56884906..56886785,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135423	Chromatin interaction

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10876895	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11171862	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11171863	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11171870	0.82[ASN][1000 genomes]
rs12304519	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12313841	0.85[EUR][1000 genomes]
rs12316930	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12809550	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12813881	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2638285	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2638330	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2638334	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2638335	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2657909	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34287864	0.89[EUR][1000 genomes]
rs3809122	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58252713	0.90[ASN][1000 genomes]
rs6581096	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71459375	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs71459376	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7314242	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[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	nsv1043622	chr12:56571476-56974448	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
2	nsv541500	chr12:56571476-56974448	Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
3	nsv1052713	chr12:56848036-56917602	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	35 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs11171865	SPRYD4	Cis_1M	lymphoblastoid	RTeQTL
rs11171865	RBMS2	cis	Esophagus Mucosa	GTEx
rs11171865	RBMS2	Cis_1M	lymphoblastoid	RTeQTL
rs11171865	FUT1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56884400-56890600	Weak transcription	HepG2	liver

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