Variant report

Variant	rs2125523
Chromosome Location	chr8:9274092-9274093
allele	C/T
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	chr8:9274030-9274536	ECC-1	luminal epithelium:	n/a	chr8:9274292-9274306 chr8:9274286-9274306 chr8:9274286-9274306 chr8:9274286-9274306
2	REST	chr8:9274084-9274426	A549	lung:	n/a	chr8:9274292-9274306 chr8:9274286-9274306 chr8:9274286-9274306 chr8:9274286-9274306
3	REST	chr8:9274084-9274395	H1-hESC	embryonic stem cell:	n/a	chr8:9274292-9274306 chr8:9274286-9274306 chr8:9274286-9274306 chr8:9274286-9274306

Variant related genes	Relation type
ENSG00000254237	TF binding region

Extended variants
information (count: 31 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11786170	0.82[EUR][1000 genomes]
rs13259937	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13279136	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13281098	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1458944	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17149988	1.00[JPT][hapmap]
rs17663618	0.82[EUR][1000 genomes]
rs17730811	0.81[EUR][1000 genomes]
rs34419585	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35589912	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35705789	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35737154	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4841143	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4841150	0.81[EUR][1000 genomes]
rs67985496	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6989109	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs6998326	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7001721	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7001736	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7005065	0.84[CEU][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7009845	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7464733	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv817373	chr8:8857854-9361049	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv949434	chr8:8993551-9318404	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv530864	chr8:9097498-9914548	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv497927	chr8:9097611-9544519	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv1030524	chr8:9183482-9412833	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	esv2764086	chr8:9216584-9334601	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv1026506	chr8:9258997-9338042	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv1027325	chr8:9264405-9333207	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr8:9268800-9274800	Weak transcription	Fetal Brain Male	brain
2	chr8:9270600-9274600	Weak transcription	Brain Germinal Matrix	brain

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