Variant report

Variant	rs1389421
Chromosome Location	chr11:25791145-25791146
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10501023	0.98[ASN][1000 genomes]
rs10767439	0.81[CHB][hapmap]
rs10834790	0.90[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs11028879	0.92[ASN][1000 genomes]
rs11028919	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11028926	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11604242	0.90[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs12270537	0.94[ASN][1000 genomes]
rs12420001	0.85[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs12421497	0.92[ASN][1000 genomes]
rs1389422	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2349234	0.90[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs2349235	0.90[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs2349236	0.90[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs35649299	0.94[ASN][1000 genomes]
rs4923303	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4923304	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4923305	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7123017	0.98[ASN][1000 genomes]
rs7126638	0.88[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs7935482	0.92[ASN][1000 genomes]
rs961923	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2760599	chr11:25186984-26159450	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1046507	chr11:25469712-26111707	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv2759811	chr11:25564190-25842666	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1041080	chr11:25585107-25931087	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1039190	chr11:25592509-25925352	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv540973	chr11:25592509-25925352	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv2758259	chr11:25633803-25842666	Enhancers ZNF genes & repeats Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv428252	chr11:25633803-25842666	Enhancers ZNF genes & repeats Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv897137	chr11:25730008-25796742	Enhancers ZNF genes & repeats Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	esv2754472	chr11:25760321-25793308	ZNF genes & repeats Enhancers Active TSS Weak transcription	lncRNA	n/a	inside rSNPs	diseases
11	nsv467774	chr11:25773322-25924809	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
12	nsv553895	chr11:25773322-25924809	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1389421	BBOX1	cis	parietal	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:25790400-25791400	Enhancers	Hela-S3	cervix
2	chr11:25790600-25791200	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr11:25790600-25791200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr11:25790600-25791400	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr11:25791000-25791800	Enhancers	HUES64 Cell Line	embryonic stem cell

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