Variant report

Variant	rs6682255
Chromosome Location	chr1:69389574-69389575
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 73 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10047054	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1022013	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10493451	0.82[ASN][1000 genomes]
rs11209362	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11209370	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11576549	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11579356	0.82[ASN][1000 genomes]
rs11581649	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11582908	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11801267	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11801354	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11801756	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11802814	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11804299	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11806894	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11809118	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12087596	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13375469	0.93[ASN][1000 genomes]
rs13375505	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1396022	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1507855	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1507858	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2420551	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28599531	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4301671	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4313445	0.86[ASN][1000 genomes]
rs4328112	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4390220	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4420133	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4484966	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4484967	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4539178	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4649904	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55815583	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56026859	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58102432	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58815715	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6658033	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6658121	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6658623	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6662460	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6662550	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6662842	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6669357	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6673849	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6682095	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72680475	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72680481	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72680485	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72680492	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72680493	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72680496	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72682206	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72682210	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72682218	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72682222	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72682227	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72682228	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7412448	0.82[ASN][1000 genomes]
rs7414744	0.82[ASN][1000 genomes]
rs7547769	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7551318	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9436417	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9436422	1.00[ASN][1000 genomes]
rs9436423	1.00[ASN][1000 genomes]
rs9436863	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9436866	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9803974	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9804111	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs994176	1.00[ASN][1000 genomes]
rs9988609	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv871131	chr1:69323222-69427276	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	lncRNA	n/a	inside rSNPs	diseases
2	nsv870641	chr1:69338706-69446281	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6682255	RPE65	cis	intralobular white matter	BrainEAC

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:69389000-69389600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
2	chr1:69389200-69389600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
3	chr1:69389200-69389600	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr1:69389200-69390200	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr1:69389400-69389600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell

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