Variant report

Variant	rs2059808
Chromosome Location	chr19:52751053-52751054
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:52745285..52748206-chr19:52749968..52752149,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10407427	1.00[ASN][1000 genomes]
rs10413108	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10416373	1.00[ASN][1000 genomes]
rs10417447	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10425742	0.90[AFR][1000 genomes]
rs13343453	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs16983619	1.00[CHB][hapmap];0.90[YRI][hapmap];0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs16983638	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16983643	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16983648	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2115074	0.83[AFR][1000 genomes]
rs4327163	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs55716802	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57370252	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs60307688	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs60998301	1.00[ASN][1000 genomes]
rs62110361	0.92[ASN][1000 genomes]
rs62110362	0.92[ASN][1000 genomes]
rs6509628	0.81[ASW][hapmap]
rs6509629	1.00[CHB][hapmap];0.90[YRI][hapmap];0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7249557	0.92[ASN][1000 genomes]
rs7250109	0.93[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[LWK][hapmap];0.90[YRI][hapmap];0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7255677	0.81[AFR][1000 genomes]
rs7256125	0.81[ASW][hapmap]
rs7256216	0.81[YRI][hapmap];0.85[AFR][1000 genomes]
rs7256300	0.81[ASW][hapmap]
rs7256312	0.81[ASW][hapmap]
rs7256719	0.81[ASW][hapmap]
rs73935058	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs8101776	1.00[ASN][1000 genomes]
rs8108037	0.92[ASN][1000 genomes]
rs8108693	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1065410	chr19:52103914-52889530	Genic enhancers Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	596 gene(s)	inside rSNPs	diseases
2	esv3366000	chr19:52491073-52842946	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS 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 miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv1066015	chr19:52502213-52890308	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv544059	chr19:52502213-52890308	Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52733200-52759600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr19:52734400-52751600	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr19:52750200-52752200	Enhancers	Fetal Muscle Leg	muscle
4	chr19:52750400-52751600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr19:52750800-52752200	Enhancers	Fetal Muscle Trunk	muscle
6	chr19:52751000-52751600	Enhancers	HSMMtube	muscle

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