Variant report

Variant	rs55985306
Chromosome Location	chr20:14259698-14259699
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1114952	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1114953	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1555411	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16994428	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16994463	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16994493	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16994496	0.82[ASN][1000 genomes]
rs16994499	0.93[ASN][1000 genomes]
rs1998487	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2181530	0.87[ASN][1000 genomes]
rs2208457	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2327820	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2876375	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35253731	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4813154	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4814292	1.00[ASN][1000 genomes]
rs55763358	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6033905	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6033907	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6033916	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6033917	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6042596	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6042601	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6042606	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6042614	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6042616	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6042677	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6042678	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6042679	0.82[ASN][1000 genomes]
rs6074706	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6074707	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6079359	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6079360	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6079371	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73901234	0.82[ASN][1000 genomes]
rs8120919	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs912190	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9967919	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066810	chr20:13451869-14432454	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv531479	chr20:13632491-14434432	Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1057486	chr20:14077828-14469129	ZNF genes & repeats Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv532514	chr20:14097780-14288315	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1066235	chr20:14173771-14389050	Weak transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv458872	chr20:14189779-14317390	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv470540	chr20:14189779-14317390	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv585439	chr20:14189779-14317390	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv1066105	chr20:14201909-14272115	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv1055499	chr20:14224873-14848061	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:14258400-14260000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr20:14258600-14261600	Enhancers	HMEC	breast
3	chr20:14259000-14263400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr20:14259200-14261000	Weak transcription	NHEK	skin

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