Variant report

Variant	rs13254592
Chromosome Location	chr8:10707271-10707272
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:10695954..10697810-chr8:10705274..10708188,2	K562	blood:

Variant related genes	Relation type
ENSG00000254093	Chromatin interaction
ENSG00000258724	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10046628	0.86[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs10089153	0.82[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs10091386	0.90[ASN][1000 genomes]
rs10093774	0.95[ASN][1000 genomes]
rs10099929	0.87[ASN][1000 genomes]
rs10109416	0.84[ASN][1000 genomes]
rs1055329	0.83[AFR][1000 genomes]
rs11250081	0.87[ASN][1000 genomes]
rs11250083	0.90[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs11776674	0.86[ASN][1000 genomes]
rs11776767	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11986845	0.86[ASN][1000 genomes]
rs11986935	0.90[ASN][1000 genomes]
rs11996727	0.90[ASN][1000 genomes]
rs12541110	0.88[ASN][1000 genomes]
rs13254059	0.90[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13274017	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1469556	0.90[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs1549796	0.90[ASN][1000 genomes]
rs17152576	0.84[ASN][1000 genomes]
rs1991649	0.88[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs1991650	0.89[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs1991651	0.99[ASN][1000 genomes]
rs2271357	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2278335	0.83[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2292370	0.86[ASN][1000 genomes]
rs2292371	0.86[ASN][1000 genomes]
rs2409649	0.86[ASN][1000 genomes]
rs2409650	0.86[ASN][1000 genomes]
rs28613656	0.88[ASN][1000 genomes]
rs35091929	0.89[ASN][1000 genomes]
rs3808603	0.90[ASN][1000 genomes]
rs4840519	0.89[ASN][1000 genomes]
rs4841452	0.86[ASN][1000 genomes]
rs6601533	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6601534	0.90[ASN][1000 genomes]
rs6601535	0.88[ASN][1000 genomes]
rs6601536	0.89[ASN][1000 genomes]
rs66844016	0.86[ASN][1000 genomes]
rs67211633	0.84[ASN][1000 genomes]
rs6982769	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6984388	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6987199	0.88[EUR][1000 genomes]
rs6987200	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6988598	0.86[ASN][1000 genomes]
rs6989160	0.80[ASN][1000 genomes]
rs6990055	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6991499	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6991526	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6992366	0.86[ASN][1000 genomes]
rs6993121	0.86[ASN][1000 genomes]
rs7000939	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7001887	0.89[ASN][1000 genomes]
rs7004998	0.84[ASN][1000 genomes]
rs7010680	0.87[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs7012206	0.90[ASN][1000 genomes]
rs7012879	0.85[AFR][1000 genomes]
rs7013032	0.89[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs7818181	0.89[ASN][1000 genomes]
rs7825100	0.83[ASN][1000 genomes]
rs7829089	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7829201	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7830317	0.92[ASN][1000 genomes]
rs7830431	0.92[ASN][1000 genomes]
rs7833128	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7833945	0.92[ASN][1000 genomes]
rs7846449	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917085	chr8:10237508-10828204	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1026802	chr8:10576444-10754489	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv539469	chr8:10576444-10754489	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
4	nsv1017836	chr8:10591801-10803617	Enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
5	nsv1034988	chr8:10591801-10804243	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
6	nsv831232	chr8:10606053-10774948	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
7	nsv1031726	chr8:10627742-10749369	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
8	nsv508497	chr8:10680621-10750255	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 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	chr8:10698000-10707800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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