Variant report

Variant	rs74092877
Chromosome Location	chr12:59758385-59758386
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs58679303	1.00[AMR][1000 genomes]
rs60448669	1.00[AMR][1000 genomes]
rs60751513	0.89[AFR][1000 genomes]
rs60860880	1.00[AMR][1000 genomes]
rs7306722	1.00[AMR][1000 genomes]
rs74091990	1.00[AMR][1000 genomes]
rs74092827	1.00[AMR][1000 genomes]
rs74092835	1.00[AMR][1000 genomes]
rs74092848	1.00[AMR][1000 genomes]
rs74092849	1.00[AMR][1000 genomes]
rs74092850	1.00[AMR][1000 genomes]
rs74092853	1.00[AMR][1000 genomes]
rs74092858	1.00[AMR][1000 genomes]
rs74092859	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74092860	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74092862	1.00[AMR][1000 genomes]
rs74092863	1.00[AMR][1000 genomes]
rs74092865	1.00[AMR][1000 genomes]
rs74092866	1.00[AMR][1000 genomes]
rs74092868	1.00[AMR][1000 genomes]
rs74092882	1.00[AMR][1000 genomes]
rs74092888	1.00[AMR][1000 genomes]
rs74092890	1.00[AMR][1000 genomes]
rs74092896	1.00[AMR][1000 genomes]
rs74092901	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74093010	1.00[AMR][1000 genomes]
rs74093013	1.00[AMR][1000 genomes]
rs74093022	1.00[AMR][1000 genomes]
rs74093028	1.00[AMR][1000 genomes]
rs74093029	1.00[AMR][1000 genomes]
rs74093037	1.00[AMR][1000 genomes]
rs74093042	1.00[AMR][1000 genomes]
rs74094805	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74094806	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74094807	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74094809	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74094870	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74094874	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74095210	1.00[AMR][1000 genomes]
rs74095212	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043385	chr12:59149582-59758952	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1067596	chr12:59167152-59764208	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv492251	chr12:59167152-59764208	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1054961	chr12:59516659-59764209	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv541506	chr12:59516659-59764209	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv559052	chr12:59532203-59809256	Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv899128	chr12:59636969-59766169	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	esv2762982	chr12:59659871-60000135	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv1042271	chr12:59668468-59993468	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv520767	chr12:59671388-59782228	Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv1038467	chr12:59680717-59999008	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
12	nsv541507	chr12:59680717-59999008	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
13	nsv1049084	chr12:59700333-59993468	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
14	nsv869425	chr12:59746898-60479741	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 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	chr12:59753400-59766600	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr12:59757600-59758600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr12:59758200-59759000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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