Variant report

Variant	rs1848880
Chromosome Location	chr11:57714638-57714639
allele	A/G
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	SPI1	chr11:57713963-57714642	GM12878	blood:	n/a	chr11:57714307-57714316 chr11:57714304-57714317 chr11:57714305-57714318 chr11:57714311-57714320 chr11:57714308-57714315

Variant related genes	Relation type
OR5BD1P	TF binding region

Extended variants
information (count: 33 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10750876	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10792119	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10792120	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10792121	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10792122	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10896663	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10896668	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10896671	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10896672	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10896674	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10896675	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12281690	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1317828	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1510419	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1510421	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1848882	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1848883	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2089748	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2136726	0.90[EUR][1000 genomes]
rs2866828	0.89[EUR][1000 genomes]
rs2866829	0.89[EUR][1000 genomes]
rs4272801	0.80[AMR][1000 genomes]
rs4939170	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6591447	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7924376	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7924454	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs938012	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9795237	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv1054205	chr11:57544264-58358509	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	nsv897589	chr11:57623815-58052357	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv983185	chr11:57714356-57732279	Enhancers Weak transcription	TF binding region	1 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	chr11:57713800-57714800	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr11:57713800-57720600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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