Variant report

Variant	rs595909
Chromosome Location	chr1:59020897-59020898
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:59017963-59021568	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:59010806..59014775-chr1:59020178..59025032,4	MCF-7	breast:
2	chr1:59019484..59022044-chr1:59038523..59040233,2	MCF-7	breast:
3	chr1:59016703..59018879-chr1:59019511..59022413,2	K562	blood:

Variant related genes	Relation type
ENSG00000270209	TF binding region
ENSG00000162600	Chromatin interaction
ENSG00000173406	Chromatin interaction

Extended variants
information (count: 111 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:110)

rs_ID	r²[population]
rs10218842	0.86[EUR][1000 genomes]
rs11207256	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11207257	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11799408	1.00[EUR][1000 genomes]
rs11799415	0.86[EUR][1000 genomes]
rs11799786	0.86[EUR][1000 genomes]
rs11800241	0.92[EUR][1000 genomes]
rs11801938	0.81[EUR][1000 genomes]
rs11802520	1.00[EUR][1000 genomes]
rs11807046	0.86[EUR][1000 genomes]
rs11808437	0.89[EUR][1000 genomes]
rs11808438	0.81[EUR][1000 genomes]
rs12024500	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1503647	0.86[EUR][1000 genomes]
rs1503648	0.86[EUR][1000 genomes]
rs1627332	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17117647	0.86[EUR][1000 genomes]
rs17117678	0.86[EUR][1000 genomes]
rs17447078	0.86[EUR][1000 genomes]
rs17506467	0.89[EUR][1000 genomes]
rs1775001	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs179798	0.87[EUR][1000 genomes]
rs1847350	0.84[EUR][1000 genomes]
rs1847351	0.86[EUR][1000 genomes]
rs232843	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs232845	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs232846	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2406783	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35075952	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41296155	0.89[EUR][1000 genomes]
rs41311174	1.00[EUR][1000 genomes]
rs488606	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4912341	0.86[EUR][1000 genomes]
rs4912342	0.86[EUR][1000 genomes]
rs4912343	0.86[EUR][1000 genomes]
rs4912345	0.81[EUR][1000 genomes]
rs4912346	0.81[EUR][1000 genomes]
rs4912347	0.92[EUR][1000 genomes]
rs492988	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs511687	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs512462	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs518070	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs530095	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs532134	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs542727	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs544596	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs546271	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs546358	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs548275	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55712302	0.86[EUR][1000 genomes]
rs55721304	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56109164	0.97[EUR][1000 genomes]
rs564252	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs565008	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs565617	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs565954	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs567787	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs573135	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs586847	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs593279	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs594973	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61779267	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61779289	1.00[EUR][1000 genomes]
rs61779290	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61779294	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61781792	0.86[EUR][1000 genomes]
rs61781813	0.86[EUR][1000 genomes]
rs61781816	0.86[EUR][1000 genomes]
rs61781818	0.86[EUR][1000 genomes]
rs61781819	0.83[EUR][1000 genomes]
rs61781821	0.81[EUR][1000 genomes]
rs61781822	0.81[EUR][1000 genomes]
rs61781823	0.81[EUR][1000 genomes]
rs61781824	0.81[EUR][1000 genomes]
rs621754	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs627633	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs628623	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs635775	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs641929	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs644928	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs654299	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs657202	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs657711	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6587829	0.81[EUR][1000 genomes]
rs664570	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6662905	0.85[EUR][1000 genomes]
rs6663128	0.81[EUR][1000 genomes]
rs6665320	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6682499	0.89[EUR][1000 genomes]
rs6682661	0.89[EUR][1000 genomes]
rs6682720	0.89[EUR][1000 genomes]
rs6684437	0.89[EUR][1000 genomes]
rs6684553	0.89[EUR][1000 genomes]
rs6698355	0.89[EUR][1000 genomes]
rs671830	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs672859	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs673276	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs725907	0.81[EUR][1000 genomes]
rs7354819	0.86[EUR][1000 genomes]
rs7355030	0.86[EUR][1000 genomes]
rs7511732	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7513876	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7514159	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7519465	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7535313	0.81[EUR][1000 genomes]
rs7536984	0.86[EUR][1000 genomes]
rs7537470	0.81[EUR][1000 genomes]
rs7547348	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7548097	0.89[EUR][1000 genomes]
rs9583	0.85[AMR][1000 genomes];1.00[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
rs595909	DAB1///OMA1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:59020800-59021600	Enhancers	HepG2	liver

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