Variant report

Variant	rs2258064
Chromosome Location	chr15:51718029-51718030
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	chr15:51716051..51718923-chr15:51836629..51839391,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11070850	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11855041	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12592390	0.81[EUR][1000 genomes]
rs12592422	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17704742	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2414104	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28362471	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34604744	0.80[EUR][1000 genomes]
rs4359386	0.83[EUR][1000 genomes]
rs4462536	0.83[EUR][1000 genomes]
rs4775945	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4775950	0.81[EUR][1000 genomes]
rs6493502	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6493504	0.83[EUR][1000 genomes]
rs7164999	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7176988	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8024233	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs8025536	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8030113	0.81[EUR][1000 genomes]
rs8034340	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv569400	chr15:50874964-51767265	ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	esv34532	chr15:51276128-51752856	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	esv2758382	chr15:51282257-51830339	Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	esv2760031	chr15:51282257-51830339	Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv471243	chr15:51345485-52018096	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	esv2757600	chr15:51352249-51783981	Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	nsv904216	chr15:51631479-51739808	Bivalent Enhancer Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv904217	chr15:51695653-51881980	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
9	esv13368	chr15:51705468-51735025	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2258064	DMXL2	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:51707200-51738800	Weak transcription	Placenta	Placenta
2	chr15:51707400-51721400	Weak transcription	Brain Substantia Nigra	brain
3	chr15:51707400-51740200	Weak transcription	Brain Hippocampus Middle	brain
4	chr15:51717000-51718200	Enhancers	Hela-S3	cervix
5	chr15:51718000-51718200	Enhancers	A549	lung
6	chr15:51718000-51718400	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr15:51718000-51718600	Enhancers	iPS-18 Cell Line	embryonic stem cell

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