Variant report

Variant	rs2864090
Chromosome Location	chr19:51975385-51975386
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:51974430..51976310-chr19:52037889..52040847,2	K562	blood:
2	chr19:51974505..51976487-chr19:52010911..52013199,2	K562	blood:
3	chr19:51868665..51871642-chr19:51973620..51976713,3	K562	blood:

Variant related genes	Relation type
ENSG00000269580	Chromatin interaction
ENSG00000268520	Chromatin interaction
ENSG00000269403	Chromatin interaction
ENSG00000105379	Chromatin interaction
ENSG00000160318	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10424482	0.87[EUR][1000 genomes]
rs10424572	0.98[EUR][1000 genomes]
rs10424783	0.87[EUR][1000 genomes]
rs10424804	0.87[EUR][1000 genomes]
rs11878257	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11878282	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11878388	0.98[EUR][1000 genomes]
rs11881105	0.94[EUR][1000 genomes]
rs16982729	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17206902	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs185254	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2607257	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2607258	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2607259	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2607260	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28539101	1.00[EUR][1000 genomes]
rs28607420	0.87[EUR][1000 genomes]
rs2864091	1.00[EUR][1000 genomes]
rs2864092	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2864093	1.00[EUR][1000 genomes]
rs36502	0.96[ASN][1000 genomes]
rs36503	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56799568	0.98[EUR][1000 genomes]
rs61201251	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62115066	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62116369	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62116370	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62116371	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62116417	0.98[EUR][1000 genomes]
rs62116418	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62116419	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62116420	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62116422	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7246811	0.98[EUR][1000 genomes]
rs8101777	0.87[EUR][1000 genomes]
rs8107537	0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066308	chr19:51680133-52103974	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv544049	chr19:51680133-52103974	Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
3	nsv458724	chr19:51925519-51975723	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv579965	chr19:51925519-51975723	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv544051	chr19:51944903-52147459	Bivalent Enhancer Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv961163	chr19:51971394-51976393	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51972000-51976000	Weak transcription	Duodenum Mucosa	Duodenum
2	chr19:51972600-51976400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr19:51974800-51976000	Enhancers	K562	blood
4	chr19:51975000-51976600	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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