Variant report

Variant	rs12563780
Chromosome Location	chr1:80854470-80854471
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11162979	1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11162980	1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11162981	1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12401596	1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12403757	0.85[AMR][1000 genomes]
rs12409931	0.85[AMR][1000 genomes]
rs12409963	0.85[AMR][1000 genomes]
rs12410212	0.85[AMR][1000 genomes]
rs12410236	0.85[AMR][1000 genomes]
rs12561868	1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12562028	0.81[AFR][1000 genomes]
rs13374097	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs13374902	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs17104717	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs1873488	1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1873490	1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1873491	0.81[AFR][1000 genomes]
rs5022556	0.85[CHB][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs72933135	0.91[ASN][1000 genomes]
rs7413303	1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs890566	0.84[AFR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012286	chr1:80057078-81005153	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv535018	chr1:80057078-81005153	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1000792	chr1:80076146-81015283	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv546661	chr1:80656114-81156849	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv1011060	chr1:80745999-80972049	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv871859	chr1:80752283-80908148	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv546662	chr1:80809034-80870692	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
8	esv2754256	chr1:80811353-80992195	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv871451	chr1:80814734-80908148	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv546663	chr1:80838880-80909417	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv462272	chr1:80839278-80909417	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv546664	chr1:80839278-80909417	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:80854000-80854600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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