Variant report

Variant	rs357202
Chromosome Location	chr1:71978773-71978774
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1041639	0.80[CHD][hapmap]
rs11209788	0.80[CHD][hapmap]
rs12043828	0.80[ASN][1000 genomes]
rs12058909	0.80[CHD][hapmap]
rs12727814	0.85[CHB][hapmap];0.80[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap]
rs1517759	0.85[CHB][hapmap];0.80[CHD][hapmap];1.00[JPT][hapmap]
rs1607275	0.92[ASN][1000 genomes]
rs1889298	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs357199	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.95[TSI][hapmap];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs357200	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.95[TSI][hapmap]
rs357201	0.81[AMR][1000 genomes]
rs357203	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs357206	0.92[ASN][1000 genomes]
rs357208	0.81[ASN][1000 genomes]
rs357209	0.81[ASN][1000 genomes]
rs357210	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs357211	0.80[ASN][1000 genomes]
rs357214	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs357222	1.00[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];0.86[YRI][hapmap];0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs357225	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs357228	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs357230	0.86[CHD][hapmap];0.81[ASN][1000 genomes]
rs357233	0.80[CHD][hapmap]
rs357234	0.81[ASW][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.87[MEX][hapmap];0.96[YRI][hapmap]
rs357237	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs6680901	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs672999	0.92[ASN][1000 genomes]
rs7553624	0.83[CHD][hapmap]

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	nsv949599	chr1:71655652-72327802	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv916508	chr1:71777392-72046388	Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv546474	chr1:71793221-72040354	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv830170	chr1:71856447-72008758	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs357202	RPE65	cis	cerebellum	SCAN
rs357202	LHX8	cis	parietal	SCAN

Chromatin state (count:0 , 50 per page) page:

No data

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