Variant report

Variant	rs12327743
Chromosome Location	chr19:44484198-44484199
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10451441	1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[ASN][1000 genomes]
rs11667318	1.00[EUR][1000 genomes]
rs11672570	1.00[EUR][1000 genomes]
rs16976952	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16976959	1.00[ASW][hapmap];1.00[CHB][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16978634	1.00[EUR][1000 genomes]
rs35026751	1.00[EUR][1000 genomes]
rs369958	1.00[CHB][hapmap];0.89[ASN][1000 genomes]
rs378598	1.00[EUR][1000 genomes]
rs385016	1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[ASN][1000 genomes]
rs405676	1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[ASN][1000 genomes]
rs419277	0.89[ASN][1000 genomes]
rs424147	1.00[EUR][1000 genomes]
rs430107	1.00[EUR][1000 genomes]
rs439676	1.00[CHB][hapmap];0.89[ASN][1000 genomes]
rs448921	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4599026	1.00[EUR][1000 genomes]
rs462723	0.89[ASN][1000 genomes]
rs57574350	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58379185	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59021410	0.89[ASN][1000 genomes]
rs59955744	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60213673	0.89[ASN][1000 genomes]
rs61254478	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6650752	0.89[ASN][1000 genomes]
rs7260087	1.00[EUR][1000 genomes]
rs73567684	0.89[ASN][1000 genomes]
rs73567686	0.89[ASN][1000 genomes]
rs73567700	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73569807	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73569826	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73569841	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8110949	1.00[EUR][1000 genomes]
rs8112679	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469650	chr19:44405994-44555426	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv579854	chr19:44411543-44490024	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv912109	chr19:44459074-44493142	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44456400-44487800	ZNF genes & repeats	Liver	Liver
2	chr19:44462000-44485200	ZNF genes & repeats	Adipose Nuclei	Adipose
3	chr19:44474800-44487600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr19:44480800-44485000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
5	chr19:44482200-44487800	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr19:44482600-44487600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr19:44483400-44484800	ZNF genes & repeats	Fetal Brain Female	brain

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