Variant report

Variant	rs12699242
Chromosome Location	chr7:11613136-11613137
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10242744	0.82[JPT][hapmap]
rs10250564	0.82[JPT][hapmap]
rs10486153	0.89[CHB][hapmap];0.91[CHD][hapmap]
rs10486154	0.80[ASW][hapmap];0.84[GIH][hapmap];0.82[JPT][hapmap];0.94[MEX][hapmap]
rs12699211	0.82[JPT][hapmap]
rs12699236	0.90[ASN][1000 genomes]
rs12699238	0.80[CHD][hapmap];0.93[GIH][hapmap];0.89[MEX][hapmap];0.84[AMR][1000 genomes]
rs12699240	0.80[CEU][hapmap];0.97[GIH][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap];0.87[AMR][1000 genomes]
rs12699241	0.87[ASW][hapmap];0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12699243	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs12699244	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs12699245	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12699246	0.95[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap]
rs12699247	0.95[CHB][hapmap];0.82[JPT][hapmap]
rs13229007	0.84[CHB][hapmap];0.84[ASN][1000 genomes]
rs13229378	0.81[CHB][hapmap];0.84[ASN][1000 genomes]
rs13229567	0.84[ASN][1000 genomes]
rs13240026	0.88[MEX][hapmap];0.83[TSI][hapmap]
rs13246013	0.93[ASN][1000 genomes]
rs17164805	0.80[CHD][hapmap]
rs17164823	0.89[CHB][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs68035468	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6980325	0.84[CHB][hapmap];0.84[ASN][1000 genomes]
rs764195	0.88[CHD][hapmap]
rs7777369	0.84[CHB][hapmap];0.94[CHD][hapmap];0.81[GIH][hapmap];0.94[JPT][hapmap];0.89[MEX][hapmap];0.91[TSI][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7785852	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028326	chr7:11221209-11754436	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv538733	chr7:11221209-11754436	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1023665	chr7:11457493-11773517	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv887606	chr7:11473561-11771288	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv606199	chr7:11506143-12486659	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 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	chr7:11577400-11615200	Weak transcription	Placenta	Placenta
2	chr7:11609200-11613400	Enhancers	Liver	Liver
3	chr7:11610600-11613400	Weak transcription	A549	lung
4	chr7:11612800-11613200	Enhancers	Fetal Lung	lung

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