Variant report

Variant	rs4602314
Chromosome Location	chr22:30874142-30874143
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:30873122..30874681-chr22:30883179..30885097,2	K562	blood:
2	chr22:30794407..30796081-chr22:30871595..30874543,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100003	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs1001409	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1008801	1.00[ASN][1000 genomes]
rs11912737	1.00[ASN][1000 genomes]
rs13053262	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13054004	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13750	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16988720	1.00[ASN][1000 genomes]
rs17670707	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17670808	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17738527	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17738540	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1859479	1.00[ASN][1000 genomes]
rs1986969	0.95[ASN][1000 genomes]
rs2189835	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2412989	1.00[ASN][1000 genomes]
rs2412990	1.00[ASN][1000 genomes]
rs35102600	0.95[ASN][1000 genomes]
rs35530794	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35841307	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60308761	0.88[ASN][1000 genomes]
rs6518693	1.00[ASN][1000 genomes]
rs6518695	1.00[ASN][1000 genomes]
rs7284873	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7285878	1.00[ASN][1000 genomes]
rs7286523	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7286807	0.95[ASN][1000 genomes]
rs7287003	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7287135	1.00[ASN][1000 genomes]
rs7287596	1.00[ASN][1000 genomes]
rs7287943	0.85[EUR][1000 genomes]
rs7289277	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7289820	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7289828	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7291870	1.00[ASN][1000 genomes]
rs7292573	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs737942	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8136225	1.00[ASN][1000 genomes]
rs8136992	1.00[ASN][1000 genomes]
rs8137267	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8137718	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8138759	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8141108	1.00[ASN][1000 genomes]
rs8141286	1.00[ASN][1000 genomes]
rs8141318	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8141428	1.00[ASN][1000 genomes]
rs8141671	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs886615	1.00[ASN][1000 genomes]
rs886616	1.00[ASN][1000 genomes]
rs886617	1.00[ASN][1000 genomes]
rs9306262	1.00[ASN][1000 genomes]
rs9606735	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9606736	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9606738	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9606739	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9606744	1.00[ASN][1000 genomes]
rs9606745	1.00[ASN][1000 genomes]
rs9606746	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9606747	1.00[ASN][1000 genomes]
rs9606749	1.00[ASN][1000 genomes]
rs9608935	1.00[ASN][1000 genomes]
rs9608936	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9608938	1.00[ASN][1000 genomes]
rs9608940	1.00[ASN][1000 genomes]
rs9608941	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9608942	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9608944	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9608946	0.89[EUR][1000 genomes]
rs9608955	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9608956	0.91[ASN][1000 genomes]
rs9608960	1.00[ASN][1000 genomes]
rs9608964	1.00[ASN][1000 genomes]
rs9608966	1.00[ASN][1000 genomes]
rs9608967	1.00[ASN][1000 genomes]
rs9608968	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9608972	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829171	chr22:30598030-31043578	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 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	chr22:30872800-30881400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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