Variant report

Variant	rs12114583
Chromosome Location	chr8:51683504-51683505
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10088818	0.88[ASN][1000 genomes]
rs10093941	0.88[ASN][1000 genomes]
rs10098054	1.00[ASN][1000 genomes]
rs10101945	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10104579	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10108931	0.88[ASN][1000 genomes]
rs10113012	0.88[ASN][1000 genomes]
rs12114158	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12114735	1.00[ASN][1000 genomes]
rs12677347	0.88[ASN][1000 genomes]
rs12679277	1.00[ASN][1000 genomes]
rs13439381	1.00[ASN][1000 genomes]
rs13439385	1.00[ASN][1000 genomes]
rs1355066	1.00[ASN][1000 genomes]
rs1355067	1.00[ASN][1000 genomes]
rs16915414	1.00[ASN][1000 genomes]
rs16915418	1.00[ASN][1000 genomes]
rs16915420	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16915426	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16915511	1.00[ASN][1000 genomes]
rs1905529	0.84[ASN][1000 genomes]
rs28392660	0.88[ASN][1000 genomes]
rs28445611	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28522969	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28544954	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28577248	1.00[ASN][1000 genomes]
rs28586607	0.88[ASN][1000 genomes]
rs28605292	1.00[ASN][1000 genomes]
rs28820019	1.00[ASN][1000 genomes]
rs28855797	1.00[ASN][1000 genomes]
rs56902821	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57021506	0.88[ASN][1000 genomes]
rs59925681	1.00[ASN][1000 genomes]
rs60438174	1.00[ASN][1000 genomes]
rs6473406	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6473431	1.00[ASN][1000 genomes]
rs6473434	1.00[ASN][1000 genomes]
rs6473443	0.98[ASN][1000 genomes]
rs67053119	1.00[ASN][1000 genomes]
rs6982493	0.90[ASN][1000 genomes]
rs6987928	0.86[ASN][1000 genomes]
rs6996600	1.00[ASN][1000 genomes]
rs6996648	0.98[ASN][1000 genomes]
rs6996807	1.00[ASN][1000 genomes]
rs6997145	0.98[ASN][1000 genomes]
rs6997493	1.00[ASN][1000 genomes]
rs7005117	1.00[ASN][1000 genomes]
rs7008324	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7009255	1.00[ASN][1000 genomes]
rs7015783	1.00[ASN][1000 genomes]
rs7017944	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7341612	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73570300	0.96[ASN][1000 genomes]
rs73572301	1.00[ASN][1000 genomes]
rs73574056	0.90[ASN][1000 genomes]
rs73574081	0.88[ASN][1000 genomes]
rs73575091	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73575093	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73575102	1.00[ASN][1000 genomes]
rs73576010	0.84[ASN][1000 genomes]
rs73577108	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73585313	1.00[ASN][1000 genomes]
rs7814077	0.98[ASN][1000 genomes]
rs7814559	1.00[ASN][1000 genomes]
rs7831414	1.00[ASN][1000 genomes]
rs7837449	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7838908	1.00[ASN][1000 genomes]

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	nsv948436	chr8:51115028-51917504	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv531502	chr8:51390997-51703556	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv3514165	chr8:51416583-51923545	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv3514166	chr8:51416583-51923545	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1027452	chr8:51525439-51725489	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1019760	chr8:51628619-51862150	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1029698	chr8:51628619-51863635	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv890874	chr8:51681031-51772697	Enhancers ZNF genes & repeats Weak transcription Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv890875	chr8:51681031-51780761	Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	1 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	chr8:51682800-51685600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr8:51683200-51685800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell

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