Variant report

Variant	rs12334688
Chromosome Location	chr8:51087120-51087121
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10086701	1.00[AMR][1000 genomes]
rs10086711	1.00[AMR][1000 genomes]
rs10087717	1.00[AMR][1000 genomes]
rs10092855	1.00[AMR][1000 genomes]
rs10095854	1.00[AMR][1000 genomes]
rs10098968	1.00[AMR][1000 genomes]
rs10100178	1.00[AMR][1000 genomes]
rs10102192	1.00[AMR][1000 genomes]
rs10103196	1.00[AMR][1000 genomes]
rs10105597	1.00[AMR][1000 genomes]
rs10105663	1.00[AMR][1000 genomes]
rs10108552	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10110083	1.00[AMR][1000 genomes]
rs10110244	1.00[AMR][1000 genomes]
rs10110791	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11986830	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11995916	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16914314	1.00[AMR][1000 genomes]
rs16914324	1.00[AMR][1000 genomes]
rs16914325	1.00[AMR][1000 genomes]
rs16914366	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16914373	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16914384	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16914386	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16914392	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16914395	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16914462	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28546668	1.00[AMR][1000 genomes]
rs28642790	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28644781	1.00[AMR][1000 genomes]
rs28654110	1.00[AMR][1000 genomes]
rs28760868	1.00[AMR][1000 genomes]
rs28773838	1.00[AMR][1000 genomes]
rs56804531	1.00[AMR][1000 genomes]
rs9987189	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3353749	chr8:50530807-51139242	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv916392	chr8:50827638-51395140	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	esv2759613	chr8:50873293-51137995	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv2758621	chr8:50886593-51137995	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv1829361	chr8:51021638-51101126	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1027984	chr8:51060895-51098808	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv1022362	chr8:51071742-51093985	Enhancers ZNF genes & repeats Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv8340	chr8:51085564-51087130	ZNF genes & repeats Weak transcription Enhancers Strong transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:51085600-51091200	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr8:51087000-51087200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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