Variant report

Variant	rs73339342
Chromosome Location	chr20:25581083-25581084
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:25578107..25581222-chr20:25601982..25605095,3	MCF-7	breast:
2	chr20:25579638..25582269-chr20:25599435..25601779,2	K562	blood:
3	chr20:25560873..25562976-chr20:25579297..25581436,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000213742	Chromatin interaction
ENSG00000170191	Chromatin interaction

Extended variants
information (count: 97 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs28417591	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28439563	1.00[EUR][1000 genomes]
rs28733778	1.00[EUR][1000 genomes]
rs417446	1.00[EUR][1000 genomes]
rs56795563	1.00[EUR][1000 genomes]
rs57150489	1.00[AMR][1000 genomes]
rs57237389	1.00[EUR][1000 genomes]
rs57522322	1.00[EUR][1000 genomes]
rs57579912	1.00[EUR][1000 genomes]
rs57870458	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57982209	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59362331	1.00[EUR][1000 genomes]
rs59826126	1.00[EUR][1000 genomes]
rs60758360	1.00[EUR][1000 genomes]
rs60772859	1.00[EUR][1000 genomes]
rs60831246	1.00[EUR][1000 genomes]
rs60834749	1.00[EUR][1000 genomes]
rs61146844	1.00[AMR][1000 genomes]
rs61598299	1.00[AMR][1000 genomes]
rs6515689	1.00[AMR][1000 genomes]
rs7264066	1.00[EUR][1000 genomes]
rs7267586	1.00[AMR][1000 genomes]
rs7267807	1.00[EUR][1000 genomes]
rs7273366	1.00[AMR][1000 genomes]
rs7274976	1.00[EUR][1000 genomes]
rs73331880	1.00[EUR][1000 genomes]
rs73331881	1.00[EUR][1000 genomes]
rs73333506	1.00[EUR][1000 genomes]
rs73333515	1.00[EUR][1000 genomes]
rs73333541	1.00[EUR][1000 genomes]
rs73333553	1.00[EUR][1000 genomes]
rs73333566	1.00[EUR][1000 genomes]
rs73333583	1.00[EUR][1000 genomes]
rs73333590	1.00[EUR][1000 genomes]
rs73334116	1.00[AMR][1000 genomes]
rs73335304	1.00[EUR][1000 genomes]
rs73335318	1.00[EUR][1000 genomes]
rs73335329	1.00[EUR][1000 genomes]
rs73335331	1.00[EUR][1000 genomes]
rs73335348	1.00[EUR][1000 genomes]
rs73335353	1.00[EUR][1000 genomes]
rs73335363	1.00[EUR][1000 genomes]
rs73335366	1.00[EUR][1000 genomes]
rs73335375	1.00[EUR][1000 genomes]
rs73335382	1.00[EUR][1000 genomes]
rs73335383	1.00[EUR][1000 genomes]
rs73335389	1.00[EUR][1000 genomes]
rs73335394	1.00[EUR][1000 genomes]
rs73335398	1.00[EUR][1000 genomes]
rs73335400	1.00[EUR][1000 genomes]
rs73335402	1.00[EUR][1000 genomes]
rs73337303	1.00[EUR][1000 genomes]
rs73337317	1.00[EUR][1000 genomes]
rs73337328	1.00[EUR][1000 genomes]
rs73337360	1.00[EUR][1000 genomes]
rs73337362	1.00[EUR][1000 genomes]
rs73337380	1.00[EUR][1000 genomes]
rs73337391	1.00[EUR][1000 genomes]
rs73339340	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73339354	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73339363	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73339381	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73341321	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73341330	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73341334	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73341366	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73341383	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73343243	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73343250	1.00[AMR][1000 genomes]
rs73343264	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73343265	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73345256	1.00[AMR][1000 genomes]
rs73348906	1.00[AMR][1000 genomes]
rs73348986	1.00[AMR][1000 genomes]
rs8118159	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8125218	1.00[AMR][1000 genomes]
rs9917415	1.00[AMR][1000 genomes]
rs9917456	1.00[AMR][1000 genomes]
rs9917460	1.00[AMR][1000 genomes]
rs9941767	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9967947	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv1060591	chr20:25388781-25628750	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv544223	chr20:25388781-25628750	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1067441	chr20:25397566-25615439	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS 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
5	nsv912828	chr20:25433015-25595175	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv1062452	chr20:25438025-25590278	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv1066066	chr20:25439367-25588016	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv544224	chr20:25439367-25588016	Genic enhancers ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv912829	chr20:25444242-25595175	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
10	nsv912830	chr20:25449945-25595175	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	nsv912831	chr20:25449945-25595868	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
12	nsv994976	chr20:25466406-25593286	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
13	nsv534623	chr20:25466406-25593296	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
14	esv2762069	chr20:25506582-25619528	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
15	nsv912832	chr20:25527984-25595175	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
16	nsv912833	chr20:25539486-25595175	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:25573800-25590400	Weak transcription	Thymus	Thymus
2	chr20:25576000-25585800	Weak transcription	Fetal Stomach	stomach
3	chr20:25580200-25603000	Weak transcription	Fetal Brain Male	brain
4	chr20:25580600-25581400	Enhancers	Fetal Heart	heart
5	chr20:25580600-25582000	Enhancers	Osteobl	bone
6	chr20:25580800-25581400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr20:25581000-25581600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr20:25581000-25582000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr20:25581000-25582200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr20:25581000-25582200	Enhancers	HSMMtube	muscle
11	chr20:25581000-25583800	Enhancers	HepG2	liver

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