Variant report

Variant	rs718609
Chromosome Location	chr1:190307072-190307073
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10429905	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs10920705	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs10920711	0.91[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap]
rs12024510	1.00[CEU][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12030570	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs12032164	0.91[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs12035557	0.90[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs12041138	0.95[CEU][hapmap];0.81[CHB][hapmap];0.91[GIH][hapmap];0.81[MKK][hapmap];0.95[TSI][hapmap]
rs12060478	0.80[ASN][1000 genomes]
rs12065497	0.91[LWK][hapmap]
rs12724000	0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs1442568	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs1442569	0.82[ASW][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];0.89[JPT][hapmap];0.84[LWK][hapmap];0.86[MKK][hapmap]
rs1592251	0.82[ASW][hapmap];1.00[CEU][hapmap];0.81[CHB][hapmap];0.82[CHD][hapmap];0.86[GIH][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.95[TSI][hapmap];0.89[AMR][1000 genomes]
rs16832305	0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs1855242	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1891586	0.95[CEU][hapmap];0.81[CHB][hapmap];0.97[TSI][hapmap]
rs34632967	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs3931875	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs4845237	0.95[CHD][hapmap]
rs61818785	0.80[ASN][1000 genomes]
rs61818787	0.80[ASN][1000 genomes]
rs6681246	1.00[CEU][hapmap];0.81[CHB][hapmap];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6691819	0.90[ASN][1000 genomes]
rs6691910	0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7527690	0.83[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv548532	chr1:189758772-190371671	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv932040	chr1:190005334-190914580	Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1013402	chr1:190197674-190332464	Enhancers ZNF genes & repeats Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
4	nsv535246	chr1:190197674-190332464	Enhancers Weak transcription Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
5	nsv430013	chr1:190288297-190351677	Enhancers Active TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs718609	C1orf21	cis	cerebellum	SCAN

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

No data

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