Variant report

Variant	rs2040816
Chromosome Location	chr7:11614579-11614580
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10240343	0.81[ASN][1000 genomes]
rs10240511	0.81[ASN][1000 genomes]
rs1034739	0.82[CHB][hapmap]
rs10428944	0.81[CHB][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10486153	0.87[CEU][hapmap]
rs10486154	0.83[CEU][hapmap]
rs10486155	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12112423	0.80[CEU][hapmap];0.83[AMR][1000 genomes]
rs12112567	0.80[CEU][hapmap];0.83[AMR][1000 genomes]
rs12113763	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12699205	0.83[AMR][1000 genomes]
rs12699206	0.83[AMR][1000 genomes]
rs12699208	0.82[CEU][hapmap];0.83[EUR][1000 genomes]
rs12699223	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12699224	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12699225	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12699233	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12699235	0.87[ASN][1000 genomes]
rs12699236	0.90[AMR][1000 genomes]
rs12699238	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs12699240	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs12699243	0.94[CEU][hapmap];0.98[AMR][1000 genomes]
rs12699244	0.94[CEU][hapmap];0.98[AMR][1000 genomes]
rs12699245	0.94[CEU][hapmap]
rs12699246	0.94[CEU][hapmap]
rs12699247	0.94[CEU][hapmap]
rs12699248	0.92[AMR][1000 genomes]
rs13228651	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13229007	0.88[CEU][hapmap];0.92[AMR][1000 genomes]
rs13229378	0.93[CEU][hapmap];0.89[AMR][1000 genomes]
rs13229567	0.89[AMR][1000 genomes]
rs13240026	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs13246013	0.83[AMR][1000 genomes]
rs17164805	0.94[CHB][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2040817	0.94[CEU][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2072139	0.80[CEU][hapmap];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2074605	0.82[CEU][hapmap];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2074606	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2074607	0.83[AMR][1000 genomes]
rs2883564	0.82[CEU][hapmap];0.83[EUR][1000 genomes]
rs34059711	0.85[ASN][1000 genomes]
rs35025590	0.96[ASN][1000 genomes]
rs35833899	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4291151	0.82[CHB][hapmap];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4443556	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4443557	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4504531	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4571634	0.82[CHB][hapmap];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs67541992	0.83[AMR][1000 genomes]
rs67661140	0.85[ASN][1000 genomes]
rs6968824	0.81[ASN][1000 genomes]
rs6975510	0.82[CHB][hapmap]
rs764195	0.87[CEU][hapmap]
rs7790988	0.94[CEU][hapmap];0.94[CHB][hapmap];0.87[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7792687	0.80[CEU][hapmap];0.80[CHB][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7792827	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7805116	0.82[CHB][hapmap];0.85[ASN][1000 genomes]
rs7811211	0.82[CHB][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs916988	0.84[CEU][hapmap];0.87[JPT][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[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:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:11577400-11615200	Weak transcription	Placenta	Placenta

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