Variant report

Variant	rs12999613
Chromosome Location	chr2:127726644-127726645
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 94 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs10194052	1.00[ASN][1000 genomes]
rs10803618	0.97[EUR][1000 genomes]
rs11884053	1.00[ASN][1000 genomes]
rs11885353	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11888349	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11889584	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11889712	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11896939	1.00[ASN][1000 genomes]
rs11898260	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12053575	0.97[EUR][1000 genomes]
rs12993596	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12997058	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12999411	1.00[ASN][1000 genomes]
rs12999757	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs13010625	1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13010652	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs13012357	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs13013476	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs13016474	1.00[ASN][1000 genomes]
rs13024324	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs13025747	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs13026367	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs13026415	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs13026430	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs13028314	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13031759	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13032401	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs13032403	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1510528	1.00[ASN][1000 genomes]
rs17014691	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17014698	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1848902	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1848903	1.00[ASN][1000 genomes]
rs1848904	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs34018781	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs34109617	1.00[ASN][1000 genomes]
rs34167893	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34234549	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs34340556	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34358238	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs34643552	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs34840409	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34840927	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34859030	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs34986734	1.00[ASN][1000 genomes]
rs35002098	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35025489	0.87[AFR][1000 genomes]
rs35143983	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35311329	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs35386494	1.00[ASN][1000 genomes]
rs35520257	1.00[ASN][1000 genomes]
rs35523788	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs35580772	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35620035	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs35686520	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36076731	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4662695	0.94[EUR][1000 genomes]
rs4662696	0.94[EUR][1000 genomes]
rs4662697	0.89[EUR][1000 genomes]
rs4663075	0.94[EUR][1000 genomes]
rs4663076	0.94[EUR][1000 genomes]
rs4663077	0.94[EUR][1000 genomes]
rs4663079	0.94[EUR][1000 genomes]
rs4663080	0.94[EUR][1000 genomes]
rs4663081	0.94[EUR][1000 genomes]
rs4663082	0.97[EUR][1000 genomes]
rs4663083	0.97[EUR][1000 genomes]
rs4663085	1.00[ASN][1000 genomes]
rs55962144	0.92[EUR][1000 genomes]
rs56086835	0.86[EUR][1000 genomes]
rs59366032	1.00[ASN][1000 genomes]
rs60133364	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60292917	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6431209	0.97[EUR][1000 genomes]
rs6431210	0.97[EUR][1000 genomes]
rs6431211	0.97[EUR][1000 genomes]
rs6431212	0.97[EUR][1000 genomes]
rs66792832	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs67141267	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6749935	0.94[EUR][1000 genomes]
rs67640318	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7419804	0.97[EUR][1000 genomes]
rs7423317	0.97[EUR][1000 genomes]
rs7556956	0.97[EUR][1000 genomes]
rs7557069	0.97[EUR][1000 genomes]
rs7586551	1.00[ASN][1000 genomes]
rs7600840	1.00[ASN][1000 genomes]
rs9967839	0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002265	chr2:127029745-127733458	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv535919	chr2:127029745-127733458	Strong transcription Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv999422	chr2:127464647-127956543	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv1004930	chr2:127477369-127938234	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv834365	chr2:127616996-127793863	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv834366	chr2:127633714-127784692	Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127722000-127727200	Weak transcription	Fetal Muscle Trunk	muscle
2	chr2:127726200-127726800	Active TSS	Spleen	Spleen
3	chr2:127726600-127728200	Enhancers	Fetal Muscle Leg	muscle

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