Variant report

Variant	rs2357062
Chromosome Location	chr2:172543109-172543110
allele	C/T
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	chr2:172543090-172543367	K562	blood:	n/a	n/a
2	IRF1	chr2:172543105-172543425	K562	blood:	n/a	chr2:172543384-172543397

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:172542927..172544505-chr2:172566367..172569318,2	K562	blood:
2	chr2:172508719..172510692-chr2:172541711..172543434,2	MCF-7	breast:

Variant related genes	Relation type
DYNC1I2	TF binding region
ENSG00000268821	Chromatin interaction
ENSG00000077380	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11673831	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11675404	0.84[AFR][1000 genomes]
rs11675891	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12991441	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13016580	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13017695	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13021138	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13024662	0.85[AMR][1000 genomes]
rs1554259	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17427311	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17427473	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17499306	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17499502	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17848721	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1996424	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2138349	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34108287	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34221876	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34632749	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34962243	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35162284	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3770459	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62182397	0.84[AFR][1000 genomes]
rs62184174	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72889853	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs74173119	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs979955	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][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	nsv997638	chr2:172442205-172560406	Weak transcription Flanking Active TSS Genic enhancers Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172539400-172543600	Weak transcription	K562	blood

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