Variant report

Variant	rs73331856
Chromosome Location	chr20:25380238-25380239
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:25274540..25275681-chr20:25379513..25380502,6	MCF-7	breast:
2	chr20:25316896..25317861-chr20:25379425..25380434,7	MCF-7	breast:
3	chr20:25274762..25275867-chr20:25379505..25380419,5	K562	blood:
4	chr20:25316916..25317821-chr20:25379512..25380380,4	MCF-7	breast:
5	chr20:25369869..25371629-chr20:25378705..25380608,2	MCF-7	breast:
6	chr20:25295465..25296133-chr20:25379463..25380411,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100997	Chromatin interaction

Extended variants
information (count: 147 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:127)

rs_ID	r²[population]
rs12106059	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12373881	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2500428	1.00[EUR][1000 genomes]
rs28417591	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28435893	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28439563	1.00[EUR][1000 genomes]
rs28551104	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28733778	1.00[EUR][1000 genomes]
rs35073849	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs417446	1.00[EUR][1000 genomes]
rs56795563	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57237389	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57522322	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57544952	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57579912	1.00[EUR][1000 genomes]
rs58189090	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58410604	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58593226	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58709664	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58722006	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58953621	1.00[AMR][1000 genomes]
rs59362331	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59431257	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59826126	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59857017	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60459445	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60479943	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60758360	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60772859	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60831246	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60834749	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60893899	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7264066	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7267807	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7270324	1.00[AMR][1000 genomes]
rs7274585	1.00[AMR][1000 genomes]
rs7274976	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73331819	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73331822	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73331824	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73331833	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73331834	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73331880	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73331881	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73333506	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73333515	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73333541	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73333553	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73333566	1.00[EUR][1000 genomes]
rs73333583	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73333590	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73335304	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73335306	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73335318	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73335323	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73335329	1.00[EUR][1000 genomes]
rs73335331	1.00[EUR][1000 genomes]
rs73335348	1.00[EUR][1000 genomes]
rs73335353	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73335363	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73335366	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73335375	1.00[EUR][1000 genomes]
rs73335382	1.00[EUR][1000 genomes]
rs73335383	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73335389	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73335394	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73335398	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73335400	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73335402	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73337303	1.00[EUR][1000 genomes]
rs73337316	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73337317	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73337328	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73337360	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73337362	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73337380	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73337391	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73339096	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73339099	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73339100	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73339340	1.00[EUR][1000 genomes]
rs73341103	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73341112	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73341114	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73341120	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73341122	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73341124	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73341128	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73341131	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73341135	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73341140	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73341143	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73341155	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73341157	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73341171	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73343010	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73343043	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73343050	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73343053	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73343058	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73343076	1.00[AMR][1000 genomes]
rs73343090	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73343097	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73345003	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73345011	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73345016	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73345021	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73345030	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73345040	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73345068	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73345069	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73345071	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73345073	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73345082	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73345087	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73345088	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73347016	1.00[AMR][1000 genomes]
rs73347023	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73347042	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73347058	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73347066	1.00[AMR][1000 genomes]
rs8115188	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8117413	1.00[AMR][1000 genomes]
rs8118017	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8120601	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8123947	1.00[AMR][1000 genomes]
rs9967947	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063494	chr20:25067286-25468557	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv1063016	chr20:25067286-25475629	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
3	nsv1065101	chr20:25068046-25466542	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
4	nsv544220	chr20:25068046-25466542	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
5	nsv531480	chr20:25070067-25472684	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
6	nsv585746	chr20:25071454-25470056	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
7	nsv1062742	chr20:25071454-25475629	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
8	nsv949389	chr20:25071454-25506582	Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
9	nsv531481	chr20:25080583-25448944	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
10	nsv949479	chr20:25096494-25467359	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
11	nsv1061109	chr20:25101715-25472685	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
12	nsv544221	chr20:25101715-25472685	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
13	nsv833948	chr20:25231726-25410540	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
14	nsv482647	chr20:25308912-25481982	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
15	nsv1056997	chr20:25316663-25492339	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
16	nsv1061058	chr20:25327960-25388841	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
17	nsv964440	chr20:25351740-25387631	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
18	nsv1067379	chr20:25355484-25593240	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
19	nsv1061398	chr20:25370106-25444076	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
20	nsv1059494	chr20:25377602-25441835	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:25372200-25380800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr20:25377600-25381600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr20:25378000-25380400	Enhancers	A549	lung
4	chr20:25379200-25381000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr20:25379600-25380800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr20:25379800-25382200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr20:25380000-25380800	Enhancers	HepG2	liver
8	chr20:25380200-25381200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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