Variant report

Variant	rs12694249
Chromosome Location	chr2:212510514-212510515
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10203821	1.00[CEU][hapmap]
rs10205275	1.00[EUR][1000 genomes]
rs16846435	1.00[CEU][hapmap]
rs6435643	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs6435644	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs6435645	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs6435646	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs6435647	1.00[CEU][hapmap]
rs6435648	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs6435649	1.00[CEU][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6435650	1.00[CEU][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6707492	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7422464	1.00[CEU][hapmap];0.80[YRI][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]

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	nsv584321	chr2:212446818-212511895	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
2	esv2754366	chr2:212470494-212541494	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases
3	nsv460070	chr2:212492764-212541377	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases
4	nsv584322	chr2:212492764-212541377	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region	1 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	chr2:212467400-212546800	Weak transcription	Aorta	Aorta
2	chr2:212508600-212512600	Weak transcription	H1 BMP4 Derived Mesendoderm 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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