Variant report

Variant	rs2924720
Chromosome Location	chr8:4840001-4840002
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10088688	1.00[CEU][hapmap];0.84[CHB][hapmap];0.90[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10094549	0.90[CEU][hapmap]
rs10101412	1.00[CEU][hapmap];0.82[CHB][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10105362	0.89[CEU][hapmap]
rs1011587	1.00[CEU][hapmap]
rs10503294	0.90[CEU][hapmap];0.81[EUR][1000 genomes]
rs10503296	0.90[CEU][hapmap];0.88[TSI][hapmap];0.81[EUR][1000 genomes]
rs11136808	0.84[CEU][hapmap]
rs11778422	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12114470	0.90[CEU][hapmap]
rs12155630	0.90[CEU][hapmap];0.85[TSI][hapmap];0.81[EUR][1000 genomes]
rs12545626	0.84[CEU][hapmap]
rs12674915	0.89[CEU][hapmap];0.81[EUR][1000 genomes]
rs13248218	0.89[CEU][hapmap]
rs13254311	0.93[CEU][hapmap]
rs13264559	1.00[CEU][hapmap];0.95[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap]
rs13273154	0.89[CEU][hapmap]
rs2924719	0.95[CEU][hapmap];0.82[CHB][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2924721	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2924723	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2924724	0.92[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];0.84[JPT][hapmap];0.98[TSI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2924726	0.87[CHB][hapmap]
rs2977694	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2977726	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2977727	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2977732	0.95[CEU][hapmap];0.82[CHB][hapmap];0.86[CHD][hapmap];0.92[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2977733	0.89[CEU][hapmap];0.83[AMR][1000 genomes]
rs4272399	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4278171	0.95[CEU][hapmap];0.93[GIH][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap]
rs4295679	0.90[CEU][hapmap]
rs4329292	1.00[CEU][hapmap]
rs4360313	0.90[CEU][hapmap]
rs4385481	0.90[CEU][hapmap]
rs4436145	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4477045	1.00[CEU][hapmap];0.91[CHB][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4495447	1.00[CEU][hapmap];0.95[CHB][hapmap];0.85[JPT][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4517142	1.00[CEU][hapmap];0.91[CHB][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4517143	1.00[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];0.90[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4521778	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4593565	1.00[CEU][hapmap]
rs4614018	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4623447	0.89[CEU][hapmap]
rs4875426	1.00[CEU][hapmap];0.91[CHD][hapmap];0.88[GIH][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4875427	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.97[GIH][hapmap];0.90[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6558951	1.00[CEU][hapmap];0.93[GIH][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap]
rs7007684	0.86[CHB][hapmap];0.84[CHD][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs9657374	0.82[CHB][hapmap];0.82[CHD][hapmap]

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	nsv609876	chr8:4494811-5092970	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1029480	chr8:4497596-5081032	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv498130	chr8:4532988-5176376	Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1031026	chr8:4771072-5054326	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1031402	chr8:4827087-4842934	Strong transcription Enhancers Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:4832000-4848200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr8:4835200-4847200	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr8:4835600-4848200	Weak transcription	Brain Angular Gyrus	brain
4	chr8:4838800-4840200	Strong transcription	Cortex derived primary cultured neurospheres	brain
5	chr8:4840000-4845200	Weak transcription	Fetal Heart	heart

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