Variant report

Variant	rs11809967
Chromosome Location	chr1:59017804-59017805
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:59010376..59013266-chr1:59015138..59019159,5	K562	blood:
2	chr1:59010739..59013825-chr1:59014370..59019048,5	K562	blood:
3	chr1:59016703..59018879-chr1:59019511..59022413,2	K562	blood:

Variant related genes	Relation type
ENSG00000162600	Chromatin interaction
ENSG00000173406	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs11207256	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11207257	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11800241	0.84[EUR][1000 genomes]
rs11808437	0.82[EUR][1000 genomes]
rs12024500	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1627332	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs17506467	0.82[EUR][1000 genomes]
rs1775001	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs2406783	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs41296155	0.82[EUR][1000 genomes]
rs488606	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4912347	0.84[EUR][1000 genomes]
rs492988	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs511687	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs512462	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs518070	0.85[AFR][1000 genomes]
rs530095	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs532134	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs542727	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs544596	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs546271	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs546358	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs548275	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs55721304	0.82[EUR][1000 genomes]
rs564252	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs565008	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs565617	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs565954	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs567787	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs573135	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs586847	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs593279	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs594973	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs621754	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs627633	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs628623	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs635775	0.81[AMR][1000 genomes]
rs641929	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs644928	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs654299	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs657202	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs657711	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs664570	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs6665320	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6682499	0.82[EUR][1000 genomes]
rs6682661	0.82[EUR][1000 genomes]
rs6682720	0.82[EUR][1000 genomes]
rs6684437	0.82[EUR][1000 genomes]
rs6684553	0.82[EUR][1000 genomes]
rs6698355	0.82[EUR][1000 genomes]
rs671830	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs672859	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs673276	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs7511732	0.82[EUR][1000 genomes]
rs7513876	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7514159	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7519465	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs7547348	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7548097	0.82[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003930	chr1:58930444-59157038	Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11809967	DAB1///OMA1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:59014600-59018000	Enhancers	Fetal Lung	lung
2	chr1:59016600-59018000	Enhancers	Fetal Muscle Leg	muscle

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