Variant report

Variant	rs16983630
Chromosome Location	chr19:52745749-52745750
allele	C/T
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:
2	chr19:52692216..52694566-chr19:52744371..52746217,2	K562	blood:

Variant related genes	Relation type
ENSG00000105568	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10520481	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13344871	1.00[JPT][hapmap]
rs16983537	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs16983625	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2002322	1.00[JPT][hapmap]
rs2560903	1.00[JPT][hapmap]
rs2657929	1.00[JPT][hapmap]
rs2657932	1.00[JPT][hapmap]
rs55955399	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs58194802	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62109201	0.85[EUR][1000 genomes]
rs62109202	0.85[EUR][1000 genomes]
rs62109205	0.89[EUR][1000 genomes]
rs62109208	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62109210	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62109247	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62109248	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62109249	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62109250	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62109251	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62109254	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62109256	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7251497	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7251605	1.00[JPT][hapmap]
rs73575024	0.87[EUR][1000 genomes]
rs73575040	0.94[EUR][1000 genomes]
rs8101929	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8107383	0.87[CEU][hapmap];1.00[JPT][hapmap]

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:2 , 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

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