Variant report

Variant	rs275587
Chromosome Location	chr11:45601762-45601763
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	REST	chr11:45601692-45602640	PFSK-1	brain:	n/a	chr11:45602146-45602155 chr11:45602146-45602166 chr11:45602146-45602166 chr11:45602152-45602166
2	REST	chr11:45601696-45602796	PFSK-1	brain:	n/a	chr11:45602146-45602155 chr11:45602146-45602166 chr11:45602146-45602166 chr11:45602152-45602166
3	REST	chr11:45601758-45602628	H1-hESC	embryonic stem cell:	n/a	chr11:45602146-45602155 chr11:45602146-45602166 chr11:45602146-45602166 chr11:45602152-45602166
4	REST	chr11:45601711-45602753	ECC-1	luminal epithelium:	n/a	chr11:45602146-45602155 chr11:45602146-45602166 chr11:45602146-45602166 chr11:45602152-45602166
5	REST	chr11:45601702-45601908	K562	blood:	n/a	n/a
6	REST	chr11:45601715-45602545	PANC-1	pancreas:	n/a	chr11:45602146-45602155 chr11:45602146-45602166 chr11:45602146-45602166 chr11:45602152-45602166
7	REST	chr11:45601754-45602566	A549	lung:	n/a	chr11:45602146-45602155 chr11:45602146-45602166 chr11:45602146-45602166 chr11:45602152-45602166
8	REST	chr11:45601651-45602953	HL-60	blood:	n/a	chr11:45602146-45602155 chr11:45602146-45602166 chr11:45602146-45602166 chr11:45602152-45602166

Variant related genes	Relation type
ENSG00000254514	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1027102	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1027105	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10742761	0.82[CEU][hapmap];0.86[CHB][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1374752	0.83[EUR][1000 genomes]
rs1488678	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1488679	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1488681	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs275586	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs275588	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs275589	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs275590	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs275591	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs275592	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs275593	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs275594	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs275595	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs275599	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6485633	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7396878	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7930664	0.88[EUR][1000 genomes]
rs901906	0.85[CHB][hapmap];0.89[YRI][hapmap];0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897310	chr11:45487041-45631953	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr11:45599200-45606400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:45600200-45607400	Weak transcription	Brain Germinal Matrix	brain

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