Variant report

Variant	rs843431
Chromosome Location	chr2:116222816-116222817
allele	A/G
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	IRF1	chr2:116222807-116222956	K562	blood:	n/a	n/a

Variant related genes	Relation type
RPSAP23	TF binding region

Extended variants
information (count: 40 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs11694627	0.82[AFR][1000 genomes]
rs12373737	0.82[AFR][1000 genomes]
rs13001120	0.82[AFR][1000 genomes]
rs1402447	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1448460	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1521073	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1584402	0.93[AFR][1000 genomes]
rs1607913	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1711999	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1712001	0.97[AFR][1000 genomes]
rs1712003	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1712013	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1839134	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1900747	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2594828	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4849405	0.82[AFR][1000 genomes]
rs60048252	1.00[AMR][1000 genomes]
rs72955579	1.00[AMR][1000 genomes]
rs72957740	1.00[AMR][1000 genomes]
rs72957749	1.00[AMR][1000 genomes]
rs72957771	1.00[AMR][1000 genomes]
rs72957776	1.00[AMR][1000 genomes]
rs72957779	1.00[AMR][1000 genomes]
rs72957790	1.00[AMR][1000 genomes]
rs72959707	1.00[AMR][1000 genomes]
rs72959746	1.00[AMR][1000 genomes]
rs72959748	1.00[AMR][1000 genomes]
rs7575073	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs843380	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs843386	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs843387	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs843389	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs843400	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs843410	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs843438	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs843439	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs843440	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs844541	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs861492	0.93[AFR][1000 genomes];1.00[AMR][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	nsv1014859	chr2:116196951-116938584	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs843431	SESTD1	trans	lymphoblastoid	seeQTL
rs843431	CKLF	trans	lymphoblastoid	seeQTL
rs843431	TK2	trans	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:116219800-116232200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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