Variant report

Variant	rs6030514
Chromosome Location	chr20:41466415-41466416
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	chr20:41464381..41466534-chr20:41468260..41469973,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs28600713	0.85[AMR][1000 genomes]
rs6016892	1.00[AMR][1000 genomes]
rs6016894	0.87[YRI][hapmap];1.00[AMR][1000 genomes]
rs6016895	0.87[YRI][hapmap];1.00[AMR][1000 genomes]
rs6016899	0.85[AMR][1000 genomes]
rs6016901	1.00[AMR][1000 genomes]
rs6030482	0.87[YRI][hapmap];1.00[AMR][1000 genomes]
rs6030483	1.00[AMR][1000 genomes]
rs6030485	1.00[AMR][1000 genomes]
rs6030487	0.87[YRI][hapmap];1.00[AMR][1000 genomes]
rs6030488	0.87[YRI][hapmap];1.00[AMR][1000 genomes]
rs6030495	1.00[AMR][1000 genomes]
rs6030497	1.00[AMR][1000 genomes]
rs6030500	1.00[AMR][1000 genomes]
rs6093738	0.87[YRI][hapmap];1.00[AMR][1000 genomes]
rs6103046	0.87[YRI][hapmap];1.00[AMR][1000 genomes]
rs6103050	0.85[AMR][1000 genomes]
rs6103051	0.85[AMR][1000 genomes]
rs6103055	0.85[YRI][hapmap];1.00[AMR][1000 genomes]
rs6103056	1.00[AMR][1000 genomes]
rs6103061	0.85[AMR][1000 genomes]
rs6103062	1.00[YRI][hapmap]
rs731609	0.87[YRI][hapmap];1.00[AMR][1000 genomes]
rs7363793	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1058990	chr20:41289969-41543912	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv544277	chr20:41289969-41543912	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1063450	chr20:41409901-41880620	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv1060690	chr20:41413369-41851935	Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1066088	chr20:41417205-42060036	Enhancers Bivalent Enhancer Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	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	chr20:41466400-41475600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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