Variant report

Variant	rs12142380
Chromosome Location	chr1:216193192-216193193
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12121718	0.90[CEU][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12123090	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12126638	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12128250	0.83[CEU][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12129791	0.81[CEU][hapmap];1.00[YRI][hapmap]
rs12738949	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17025886	0.95[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap]
rs2813730	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34510478	0.83[ASN][1000 genomes]
rs34819906	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55839123	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs565454	0.81[CEU][hapmap];0.87[YRI][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs67417484	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs678697	0.87[YRI][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs67994803	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72744680	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7531706	0.92[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006504	chr1:215890460-216642124	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv535288	chr1:215890460-216642124	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv428599	chr1:216086224-216267211	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv873172	chr1:216144827-216281673	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv873173	chr1:216151789-216204488	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv873174	chr1:216151789-216211989	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv873175	chr1:216188698-216219781	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:216193000-216193600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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