Variant report

Variant	rs8124855
Chromosome Location	chr20:1387475-1387476
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:1384990..1387871-chr20:1389849..1391425,2	K562	blood:
2	chr20:1387186..1389098-chr20:1391471..1393677,2	MCF-7	breast:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11696447	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1474879	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1474880	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16994239	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1884390	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2064645	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2064646	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2873522	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs41308086	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58194712	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58718584	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59239479	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6105101	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6105140	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6109837	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6109838	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6109962	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6109984	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6109986	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6109989	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6109992	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs66497853	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs959813	0.88[AMR][1000 genomes];1.00[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	nsv522008	chr20:1340390-1638578	Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv432095	chr20:1382500-1420340	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv994443	chr20:1385239-1392933	Weak transcription Enhancers Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv585206	chr20:1386473-1714362	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	esv1819763	chr20:1386940-1390683	Weak transcription Enhancers Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	esv1834375	chr20:1386940-1390683	Enhancers Weak transcription Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	esv1817885	chr20:1386940-1400227	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	esv3453894	chr20:1387152-1392750	Weak transcription Enhancers Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:1380600-1388400	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr20:1382400-1388400	Weak transcription	Placenta	Placenta
3	chr20:1383200-1388000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr20:1383800-1396000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr20:1384400-1395600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr20:1384400-1396000	Weak transcription	HMEC	breast
7	chr20:1385600-1387800	Enhancers	Fetal Intestine Large	intestine
8	chr20:1385800-1387600	Enhancers	Fetal Intestine Small	intestine

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