Variant report

Variant	rs7270324
Chromosome Location	chr20:25387243-25387244
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:25369196..25373772-chr20:25386901..25390344,6	MCF-7	breast:
2	chr20:25385575..25388779-chr20:25393238..25395970,3	K562	blood:

Variant related genes	Relation type
ENSG00000100997	Chromatin interaction
ENSG00000101003	Chromatin interaction

Extended variants
information (count: 138 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:118)

rs_ID	r²[population]
rs12106059	1.00[AMR][1000 genomes]
rs12373881	1.00[AMR][1000 genomes]
rs28417591	1.00[AMR][1000 genomes]
rs28435893	1.00[AMR][1000 genomes]
rs28551104	1.00[AMR][1000 genomes]
rs35073849	1.00[AMR][1000 genomes]
rs56795563	1.00[AMR][1000 genomes]
rs57237389	1.00[AMR][1000 genomes]
rs57405931	1.00[EUR][1000 genomes]
rs57522322	1.00[AMR][1000 genomes]
rs57544952	1.00[AMR][1000 genomes]
rs58189090	1.00[AMR][1000 genomes]
rs58410604	1.00[AMR][1000 genomes]
rs58412968	0.83[EUR][1000 genomes]
rs58593226	1.00[AMR][1000 genomes]
rs58709664	1.00[AMR][1000 genomes]
rs58722006	1.00[AMR][1000 genomes]
rs58953621	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs59082275	0.83[EUR][1000 genomes]
rs59362331	1.00[AMR][1000 genomes]
rs59431257	1.00[AMR][1000 genomes]
rs59826126	1.00[AMR][1000 genomes]
rs59857017	1.00[AMR][1000 genomes]
rs60459445	1.00[AMR][1000 genomes]
rs60479943	1.00[AMR][1000 genomes]
rs60758360	1.00[AMR][1000 genomes]
rs60772859	1.00[AMR][1000 genomes]
rs60831246	1.00[AMR][1000 genomes]
rs60834749	1.00[AMR][1000 genomes]
rs60893899	1.00[AMR][1000 genomes]
rs7264066	1.00[AMR][1000 genomes]
rs7267807	1.00[AMR][1000 genomes]
rs7274585	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7274919	0.83[EUR][1000 genomes]
rs7274976	1.00[AMR][1000 genomes]
rs73331819	1.00[AMR][1000 genomes]
rs73331822	1.00[AMR][1000 genomes]
rs73331824	1.00[AMR][1000 genomes]
rs73331833	1.00[AMR][1000 genomes]
rs73331834	1.00[AMR][1000 genomes]
rs73331856	1.00[AMR][1000 genomes]
rs73331880	1.00[AMR][1000 genomes]
rs73331881	1.00[AMR][1000 genomes]
rs73333506	1.00[AMR][1000 genomes]
rs73333515	1.00[AMR][1000 genomes]
rs73333541	1.00[AMR][1000 genomes]
rs73333553	1.00[AMR][1000 genomes]
rs73333583	1.00[AMR][1000 genomes]
rs73333590	1.00[AMR][1000 genomes]
rs73335304	1.00[AMR][1000 genomes]
rs73335306	1.00[AMR][1000 genomes]
rs73335318	1.00[AMR][1000 genomes]
rs73335323	1.00[AMR][1000 genomes]
rs73335353	1.00[AMR][1000 genomes]
rs73335363	1.00[AMR][1000 genomes]
rs73335366	1.00[AMR][1000 genomes]
rs73335383	1.00[AMR][1000 genomes]
rs73335389	1.00[AMR][1000 genomes]
rs73335394	1.00[AMR][1000 genomes]
rs73335398	1.00[AMR][1000 genomes]
rs73335400	1.00[AMR][1000 genomes]
rs73335402	1.00[AMR][1000 genomes]
rs73337316	1.00[AMR][1000 genomes]
rs73337317	1.00[AMR][1000 genomes]
rs73337328	1.00[AMR][1000 genomes]
rs73337350	0.83[EUR][1000 genomes]
rs73337360	1.00[AMR][1000 genomes]
rs73337362	1.00[AMR][1000 genomes]
rs73337391	1.00[AMR][1000 genomes]
rs73339096	1.00[AMR][1000 genomes]
rs73339099	1.00[AMR][1000 genomes]
rs73339100	1.00[AMR][1000 genomes]
rs73341103	1.00[AMR][1000 genomes]
rs73341112	1.00[AMR][1000 genomes]
rs73341114	1.00[AMR][1000 genomes]
rs73341120	1.00[AMR][1000 genomes]
rs73341122	1.00[AMR][1000 genomes]
rs73341124	1.00[AMR][1000 genomes]
rs73341128	1.00[AMR][1000 genomes]
rs73341131	1.00[AMR][1000 genomes]
rs73341135	1.00[AMR][1000 genomes]
rs73341140	1.00[AMR][1000 genomes]
rs73341143	1.00[AMR][1000 genomes]
rs73341155	1.00[AMR][1000 genomes]
rs73341157	1.00[AMR][1000 genomes]
rs73341171	1.00[AMR][1000 genomes]
rs73343010	1.00[AMR][1000 genomes]
rs73343043	1.00[AMR][1000 genomes]
rs73343050	1.00[AMR][1000 genomes]
rs73343053	1.00[AMR][1000 genomes]
rs73343058	1.00[AMR][1000 genomes]
rs73343076	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73343090	1.00[AMR][1000 genomes]
rs73343097	1.00[AMR][1000 genomes]
rs73345003	1.00[AMR][1000 genomes]
rs73345011	1.00[AMR][1000 genomes]
rs73345016	1.00[AMR][1000 genomes]
rs73345021	1.00[AMR][1000 genomes]
rs73345030	1.00[AMR][1000 genomes]
rs73345040	1.00[AMR][1000 genomes]
rs73345068	1.00[AMR][1000 genomes]
rs73345069	1.00[AMR][1000 genomes]
rs73345071	1.00[AMR][1000 genomes]
rs73345073	1.00[AMR][1000 genomes]
rs73345082	1.00[AMR][1000 genomes]
rs73345087	1.00[AMR][1000 genomes]
rs73345088	1.00[AMR][1000 genomes]
rs73347016	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73347023	1.00[AMR][1000 genomes]
rs73347042	1.00[AMR][1000 genomes]
rs73347058	1.00[AMR][1000 genomes]
rs73347066	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8115188	1.00[AMR][1000 genomes]
rs8117413	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8118017	1.00[AMR][1000 genomes]
rs8120601	1.00[AMR][1000 genomes]
rs8123947	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9967947	1.00[AMR][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:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:25383600-25387800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr20:25384200-25388000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr20:25384400-25388000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr20:25384600-25387800	Weak transcription	Adipose Nuclei	Adipose
5	chr20:25385400-25387800	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr20:25385600-25387600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr20:25387000-25387400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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