Variant report

Variant	rs16888729
Chromosome Location	chr8:39941852-39941853
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs13254619	1.00[ASN][1000 genomes]
rs1481048	1.00[ASN][1000 genomes]
rs1481049	1.00[ASN][1000 genomes]
rs1481052	1.00[ASN][1000 genomes]
rs16888719	1.00[ASN][1000 genomes]
rs16888724	1.00[ASN][1000 genomes]
rs16888726	1.00[ASN][1000 genomes]
rs16888732	1.00[ASN][1000 genomes]
rs16888736	1.00[ASN][1000 genomes]
rs16888738	1.00[ASN][1000 genomes]
rs16888813	1.00[CHB][hapmap]
rs28427344	1.00[ASN][1000 genomes]
rs2981193	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34487659	0.95[ASN][1000 genomes]
rs34852909	1.00[ASN][1000 genomes]
rs4521741	1.00[ASN][1000 genomes]
rs55742726	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55784256	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55977637	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55999326	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56302842	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56347116	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57071360	1.00[AMR][1000 genomes]
rs57282560	0.94[AMR][1000 genomes]
rs57503829	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57560164	0.97[AMR][1000 genomes]
rs57814007	1.00[AMR][1000 genomes]
rs58424813	0.97[AMR][1000 genomes]
rs59027887	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59248258	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59404167	1.00[AMR][1000 genomes]
rs59885214	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60751747	0.97[AMR][1000 genomes]
rs60772517	1.00[ASN][1000 genomes]
rs61048623	1.00[ASN][1000 genomes]
rs61513602	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61682670	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6474213	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6474215	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6474216	1.00[ASN][1000 genomes]
rs6474217	1.00[ASN][1000 genomes]
rs6983101	1.00[ASN][1000 genomes]
rs6983118	1.00[ASN][1000 genomes]
rs6987482	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6987771	1.00[ASN][1000 genomes]
rs6994138	1.00[ASN][1000 genomes]
rs7000302	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7000470	1.00[ASN][1000 genomes]
rs7004182	1.00[ASN][1000 genomes]
rs7007403	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7014749	1.00[ASN][1000 genomes]
rs7017503	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7017791	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71510122	1.00[ASN][1000 genomes]
rs71510123	1.00[ASN][1000 genomes]
rs73617874	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73619605	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73674750	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7821033	1.00[AMR][1000 genomes]
rs7821900	1.00[AMR][1000 genomes]
rs7822668	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7822780	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7832286	1.00[ASN][1000 genomes]
rs7836554	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7837003	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7837122	1.00[ASN][1000 genomes]
rs7837262	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7837573	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7838116	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7838519	1.00[ASN][1000 genomes]
rs7839033	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7841905	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv539555	chr8:39683857-40673606	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv534582	chr8:39884590-40653224	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:39939400-39943600	Weak transcription	Fetal Stomach	stomach
2	chr8:39939600-39943400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr8:39939600-39943600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr8:39939800-39942200	Weak transcription	Fetal Brain Male	brain
5	chr8:39940000-39942800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:39940000-39950000	Weak transcription	A549	lung
7	chr8:39940200-39943200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr8:39940600-39945000	Weak transcription	Ovary	ovary
9	chr8:39941000-39945000	Enhancers	Fetal Lung	lung
10	chr8:39941200-39942000	Enhancers	Colon Smooth Muscle	Colon
11	chr8:39941200-39942000	Enhancers	Rectal Smooth Muscle	rectum
12	chr8:39941800-39944000	Weak transcription	HepG2	liver

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