Variant report

Variant	rs12104833
Chromosome Location	chr2:212965276-212965277
allele	A/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:19)

rs_ID	r²[population]
rs10166993	0.92[EUR][1000 genomes]
rs10932420	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12618100	0.90[EUR][1000 genomes]
rs12618158	0.89[EUR][1000 genomes]
rs13395352	0.91[EUR][1000 genomes]
rs1521547	0.83[YRI][hapmap]
rs1521548	0.87[EUR][1000 genomes]
rs1521549	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs16847780	1.00[CHB][hapmap]
rs17344454	1.00[CHB][hapmap]
rs1851260	0.91[EUR][1000 genomes]
rs1915746	1.00[CHB][hapmap]
rs4319888	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4528708	1.00[CHB][hapmap]
rs4673643	1.00[CHB][hapmap]
rs4673649	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs7564926	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[GIH][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap]
rs7591736	0.83[YRI][hapmap]
rs7600270	1.00[CHB][hapmap]

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	nsv1011572	chr2:212840066-213152279	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv875802	chr2:212867291-213004603	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv875803	chr2:212874828-212969560	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv875804	chr2:212891401-212997024	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv875805	chr2:212891401-213164837	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:212963200-212971400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr2:212964600-212965800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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