Variant report

Variant	rs12612427
Chromosome Location	chr2:179935767-179935768
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10173853	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10176828	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10178559	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10186707	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10205588	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10207754	1.00[AMR][1000 genomes]
rs10208882	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10221811	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12328593	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12611473	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12613089	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12616452	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12617364	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12622434	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13382573	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13391187	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13395559	1.00[AMR][1000 genomes]
rs13408774	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13412820	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13417112	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13422693	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13429191	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16866630	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs28508327	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35041512	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6734127	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6755474	1.00[ASN][1000 genomes]
rs7581898	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7588135	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7601965	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9288024	0.92[AFR][1000 genomes];1.00[AMR][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	nsv949133	chr2:179711376-180124327	Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv875457	chr2:179775893-179966804	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv875458	chr2:179780624-179966804	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv875464	chr2:179843612-179939493	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv875465	chr2:179843612-179966804	Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv508184	chr2:179896384-179965419	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1004693	chr2:179933683-180265288	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
8	nsv1003301	chr2:179934190-179963263	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179932000-179937000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:179934800-179942800	Weak transcription	Left Ventricle	heart
3	chr2:179935400-179936800	Weak transcription	Small Intestine	intestine
4	chr2:179935600-179936000	Enhancers	Fetal Muscle Leg	muscle
5	chr2:179935600-179937800	Enhancers	Dnd41	blood
6	chr2:179935600-179938200	Enhancers	Fetal Thymus	thymus

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