Variant report

Variant	rs12727814
Chromosome Location	chr1:72014193-72014194
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1041639	1.00[CEU][hapmap];0.80[CHD][hapmap];0.97[TSI][hapmap]
rs11209793	1.00[CEU][hapmap]
rs12058909	1.00[CEU][hapmap];0.80[CHD][hapmap];0.80[MEX][hapmap];0.97[TSI][hapmap]
rs1517759	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap]
rs1607275	0.82[ASN][1000 genomes]
rs17091348	1.00[CEU][hapmap]
rs1889298	0.85[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs357199	0.81[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs357200	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs357202	0.85[CHB][hapmap];0.80[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap]
rs357203	0.84[ASN][1000 genomes]
rs357206	0.82[ASN][1000 genomes]
rs357210	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs357214	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs357222	0.94[JPT][hapmap]
rs357225	0.80[CHB][hapmap];1.00[JPT][hapmap]
rs357228	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs357233	1.00[CEU][hapmap];0.80[CHD][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap]
rs357234	1.00[CEU][hapmap];0.85[CHB][hapmap];0.91[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs357237	0.85[CHB][hapmap];0.80[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap]
rs6680901	0.91[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap]
rs672999	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949599	chr1:71655652-72327802	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv916508	chr1:71777392-72046388	Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv546474	chr1:71793221-72040354	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1003527	chr1:71989558-72025236	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv1001099	chr1:71998264-72022230	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv1007250	chr1:71998391-72350683	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv534992	chr1:71998391-72350683	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1014047	chr1:72003562-72022230	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
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