Variant report

Variant	rs73012925
Chromosome Location	chr19:21193994-21193995
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10413569	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10413841	0.96[EUR][1000 genomes]
rs10416447	0.99[EUR][1000 genomes]
rs10425841	0.92[EUR][1000 genomes]
rs11085427	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11085429	0.89[EUR][1000 genomes]
rs12052091	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12150909	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12151107	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17618418	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2358793	0.94[EUR][1000 genomes]
rs3919641	0.87[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs3937493	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4580323	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61733856	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs66693308	0.90[EUR][1000 genomes]
rs73012909	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73012916	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73012919	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73012931	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73012943	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73014828	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73014838	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73014844	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73014852	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73014854	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73014855	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73014863	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73014868	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73018961	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73018974	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73018975	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73018978	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73019002	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73020605	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73020608	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73020616	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73020624	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73020625	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73020628	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73020630	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73020631	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73020636	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73020644	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73020654	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73020661	0.90[EUR][1000 genomes]
rs73022623	0.90[EUR][1000 genomes]
rs73022624	0.90[EUR][1000 genomes]
rs73022630	0.90[EUR][1000 genomes]
rs73022634	0.89[EUR][1000 genomes]
rs73022639	0.89[EUR][1000 genomes]
rs73022640	0.87[EUR][1000 genomes]
rs73022648	0.88[EUR][1000 genomes]
rs73022667	0.88[EUR][1000 genomes]
rs73024637	0.88[EUR][1000 genomes]
rs73024645	0.88[EUR][1000 genomes]
rs73024647	0.88[EUR][1000 genomes]
rs73024648	0.88[EUR][1000 genomes]
rs73024655	0.88[EUR][1000 genomes]
rs73024657	0.88[EUR][1000 genomes]
rs73024662	0.88[EUR][1000 genomes]
rs73024665	0.86[EUR][1000 genomes]
rs73024668	0.88[EUR][1000 genomes]
rs73024670	0.88[EUR][1000 genomes]
rs73024671	0.88[EUR][1000 genomes]
rs73024674	0.88[EUR][1000 genomes]
rs73024675	0.88[EUR][1000 genomes]
rs73024685	0.83[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs73024688	0.88[EUR][1000 genomes]
rs73026655	0.88[EUR][1000 genomes]
rs73026661	0.88[EUR][1000 genomes]
rs73026662	0.83[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs73026693	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062776	chr19:20818886-21273361	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers 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
2	nsv932110	chr19:20818886-21278952	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	esv2763043	chr19:20818886-21290543	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	esv3385528	chr19:21030777-21495566	Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv817536	chr19:21041855-21348237	Strong transcription Enhancers Genic enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	esv1850387	chr19:21109758-21294264	Active TSS ZNF genes & repeats Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv911411	chr19:21184533-21263518	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv578949	chr19:21190572-21244049	ZNF genes & repeats Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21183400-21196000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr19:21183800-21194200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr19:21184000-21198000	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr19:21184400-21196800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr19:21190800-21195400	Weak transcription	Dnd41	blood
6	chr19:21192200-21194000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr19:21192200-21203000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr19:21192400-21203000	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr19:21192400-21203400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr19:21192600-21203000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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