Variant report

Variant	rs12299988
Chromosome Location	chr12:104638740-104638741
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:104637030..104638778-chr12:104641326..104643343,3	K562	blood:
2	chr12:104633027..104635535-chr12:104637306..104638927,2	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10861174	0.82[ASN][1000 genomes]
rs10861191	1.00[MEX][hapmap]
rs11111947	0.80[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs11111948	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11111949	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11111988	1.00[MEX][hapmap]
rs11832165	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11832923	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11833441	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11838096	0.88[ASN][1000 genomes]
rs11838099	0.88[ASN][1000 genomes]
rs12302458	1.00[MEX][hapmap]
rs12312443	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17035284	0.88[ASN][1000 genomes]
rs17806577	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs28651552	0.94[ASN][1000 genomes]
rs34217906	0.89[ASN][1000 genomes]
rs34494070	0.89[ASN][1000 genomes]
rs35009941	1.00[EUR][1000 genomes]
rs35456434	1.00[EUR][1000 genomes]
rs35531900	1.00[EUR][1000 genomes]
rs41453549	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4576900	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap]
rs56406045	0.94[ASN][1000 genomes]
rs57036458	0.88[ASN][1000 genomes]
rs58420147	0.88[ASN][1000 genomes]
rs59097029	0.82[ASN][1000 genomes]
rs59259947	1.00[ASN][1000 genomes]
rs60333117	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61109788	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61116111	0.88[ASN][1000 genomes]
rs61234792	0.82[ASN][1000 genomes]
rs61485460	0.88[ASN][1000 genomes]
rs61497238	0.88[ASN][1000 genomes]
rs61665972	0.88[ASN][1000 genomes]
rs7303284	1.00[CHB][hapmap]
rs7313573	0.82[ASN][1000 genomes]
rs7958103	1.00[CHB][hapmap]
rs7979713	1.00[CHB][hapmap]

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	esv1842062	chr12:104531180-104638773	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	n/a
2	nsv899493	chr12:104548613-104703228	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv899494	chr12:104561521-104806232	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv1046606	chr12:104606617-104763734	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv1038609	chr12:104613847-104764981	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv541587	chr12:104613847-104764981	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104632200-104640000	Weak transcription	Right Atrium	heart
2	chr12:104638000-104642400	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr12:104638000-104642400	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr12:104638200-104641000	Weak transcription	A549	lung

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