Variant report

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10181201	0.82[CEU][hapmap]
rs13405115	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs17344134	0.87[EUR][1000 genomes]
rs17344169	0.87[EUR][1000 genomes]
rs17344176	0.87[EUR][1000 genomes]
rs17344287	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs17344308	1.00[CEU][hapmap];0.87[GIH][hapmap];0.92[MEX][hapmap];0.87[EUR][1000 genomes]
rs17344343	1.00[CEU][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17415857	1.00[CEU][hapmap]
rs17416130	0.87[EUR][1000 genomes]
rs17416291	1.00[CEU][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17416364	1.00[CEU][hapmap]
rs17521468	0.87[EUR][1000 genomes]
rs17521510	1.00[CEU][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17580855	1.00[CEU][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17580876	1.00[CEU][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1804472	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs41281495	0.87[EUR][1000 genomes]
rs41281497	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4258834	1.00[CEU][hapmap];0.87[GIH][hapmap];0.84[MEX][hapmap];0.87[EUR][1000 genomes]
rs57810131	1.00[ASN][1000 genomes]
rs58143357	1.00[ASN][1000 genomes]
rs59228485	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61480394	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6755737	0.87[EUR][1000 genomes]
rs72911560	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72911563	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72915529	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33638	chr2:54765256-55109455	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv582024	chr2:54894649-54999712	Active TSS Bivalent Enhancer Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1005449	chr2:54938633-55129503	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv582025	chr2:54960680-54973834	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17416820	G0S2	trans	brain	seeQTL

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54954600-54965000	Weak transcription	Fetal Intestine Small	intestine
2	chr2:54956800-54964800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:54956800-54964800	Weak transcription	HepG2	liver
4	chr2:54963200-54965800	Weak transcription	Aorta	Aorta

Quick Search: