Variant report

Variant	rs6982243
Chromosome Location	chr8:52255264-52255265
allele	A/C
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	POLR2A	chr8:52255053-52255577	H1-neurons	neurons:	n/a	n/a
2	POLR2A	chr8:52255074-52255576	H1-neurons	neurons:	n/a	n/a
3	REST	chr8:52254906-52255679	H1-neurons	neurons:	n/a	n/a

Variant related genes	Relation type
PXDNL	TF binding region

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10091690	0.90[AFR][1000 genomes]
rs10099560	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10099699	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10110031	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11774588	0.96[AFR][1000 genomes]
rs11775272	0.96[AFR][1000 genomes]
rs11777020	0.84[AFR][1000 genomes]
rs11777663	0.84[AFR][1000 genomes]
rs11780044	0.80[AFR][1000 genomes]
rs11780126	0.84[AFR][1000 genomes]
rs11786018	0.84[AFR][1000 genomes]
rs11786053	0.84[AFR][1000 genomes]
rs11787165	0.84[AFR][1000 genomes]
rs1550235	1.00[EUR][1000 genomes]
rs16915981	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16916019	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16916021	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16916023	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16916024	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16916051	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16916053	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17176316	0.84[AFR][1000 genomes]
rs2392834	0.84[AFR][1000 genomes]
rs2392835	0.84[AFR][1000 genomes]
rs6984835	1.00[EUR][1000 genomes]
rs6985145	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6985579	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6986409	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6986594	1.00[EUR][1000 genomes]
rs6988739	1.00[EUR][1000 genomes]
rs6991317	1.00[EUR][1000 genomes]
rs6992306	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6993031	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6996727	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7005870	0.85[AFR][1000 genomes]
rs7010098	0.81[AFR][1000 genomes]
rs7818297	1.00[EUR][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	nsv932026	chr8:51858658-52758574	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv948338	chr8:52060314-52368754	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv890895	chr8:52190571-52615191	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv817615	chr8:52252405-53023384	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 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	chr8:52245000-52258600	Weak transcription	Left Ventricle	heart
2	chr8:52255200-52256000	Enhancers	Fetal Brain Female	brain

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