Variant report

Variant	rs185254
Chromosome Location	chr19:51970186-51970187
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:51969579..51971286-chr19:51983348..51985214,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10424482	0.86[EUR][1000 genomes]
rs10424572	0.97[EUR][1000 genomes]
rs10424783	0.86[EUR][1000 genomes]
rs10424804	0.86[EUR][1000 genomes]
rs11878257	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11878282	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11878388	0.89[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs11881105	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16982729	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17206902	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2607257	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2607258	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2607259	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2607260	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28539101	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs28607420	0.86[EUR][1000 genomes]
rs2864090	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2864091	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2864092	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2864093	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs36500	0.86[ASN][1000 genomes]
rs36501	0.91[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs36503	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56799568	0.82[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs61201251	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62115066	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62116369	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62116370	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62116371	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62116417	0.97[EUR][1000 genomes]
rs62116418	0.86[EUR][1000 genomes]
rs62116419	0.86[EUR][1000 genomes]
rs62116420	0.86[EUR][1000 genomes]
rs62116422	0.86[EUR][1000 genomes]
rs7246811	0.85[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs8101777	0.86[EUR][1000 genomes]
rs8107537	0.86[AFR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51964600-51973000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr19:51966800-51973400	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr19:51967800-51970800	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr19:51969000-51972600	Enhancers	Primary hematopoietic stem cells	blood
5	chr19:51969200-51971400	Active TSS	K562	blood
6	chr19:51969200-51971800	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr19:51969400-51971000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr19:51969600-51970800	Enhancers	Primary hematopoietic stem cells short term culture	blood

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