Variant report

Variant	rs73331863
Chromosome Location	chr20:25384973-25384974
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:25369990..25372746-chr20:25384220..25386698,2	K562	blood:
2	chr20:24973500..24975861-chr20:25384259..25387078,2	MCF-7	breast:
3	chr20:25383291..25386205-chr20:25386365..25388737,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100997	Chromatin interaction
ENSG00000101003	Chromatin interaction
ENSG00000101474	Chromatin interaction

Extended variants
information (count: 110 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs10485776	0.84[EUR][1000 genomes]
rs1109100	0.84[EUR][1000 genomes]
rs16987767	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16987786	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16987789	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16987799	0.84[EUR][1000 genomes]
rs16987820	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2179458	0.84[EUR][1000 genomes]
rs2424719	0.82[EUR][1000 genomes]
rs35666277	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs400070	0.84[EUR][1000 genomes]
rs402120	0.82[EUR][1000 genomes]
rs409401	0.82[EUR][1000 genomes]
rs426563	0.82[EUR][1000 genomes]
rs428278	0.82[EUR][1000 genomes]
rs440612	0.84[EUR][1000 genomes]
rs447808	0.82[EUR][1000 genomes]
rs4813570	0.84[EUR][1000 genomes]
rs58184048	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs58351126	0.82[ASN][1000 genomes]
rs58877578	0.90[EUR][1000 genomes]
rs59324912	0.84[EUR][1000 genomes]
rs59546510	0.84[EUR][1000 genomes]
rs6037128	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6037131	0.84[EUR][1000 genomes]
rs6037133	0.84[EUR][1000 genomes]
rs6050594	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6050597	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6050628	0.82[EUR][1000 genomes]
rs6050651	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6050658	0.84[EUR][1000 genomes]
rs6050663	0.84[EUR][1000 genomes]
rs6050692	0.90[EUR][1000 genomes]
rs6083886	0.92[EUR][1000 genomes]
rs66467007	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs66501707	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs66591653	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs66673357	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66927803	0.95[EUR][1000 genomes]
rs66940055	0.95[EUR][1000 genomes]
rs67069812	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs67184896	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs67359112	0.84[EUR][1000 genomes]
rs67455519	0.84[EUR][1000 genomes]
rs67482703	0.84[EUR][1000 genomes]
rs67679582	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs67680401	0.95[EUR][1000 genomes]
rs67921634	0.84[EUR][1000 genomes]
rs68149491	0.95[EUR][1000 genomes]
rs7260843	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7261902	0.90[EUR][1000 genomes]
rs7262450	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7266130	0.84[EUR][1000 genomes]
rs7266592	0.92[EUR][1000 genomes]
rs7273525	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7274550	0.95[EUR][1000 genomes]
rs73331878	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73333512	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73333513	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73337339	0.95[EUR][1000 genomes]
rs73337343	0.95[EUR][1000 genomes]
rs73337346	0.95[EUR][1000 genomes]
rs73337349	0.95[EUR][1000 genomes]
rs73337355	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73337356	0.95[EUR][1000 genomes]
rs73337364	0.95[EUR][1000 genomes]
rs73337366	0.95[EUR][1000 genomes]
rs73337369	0.95[EUR][1000 genomes]
rs73337372	0.95[EUR][1000 genomes]
rs73337394	0.92[EUR][1000 genomes]
rs73337401	0.88[EUR][1000 genomes]
rs73339323	0.92[EUR][1000 genomes]
rs73339335	0.92[EUR][1000 genomes]
rs73339360	0.90[EUR][1000 genomes]
rs73597810	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73597812	0.84[EUR][1000 genomes]
rs73597813	0.84[EUR][1000 genomes]
rs73598373	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs73612665	0.80[EUR][1000 genomes]
rs73614590	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73614591	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73614594	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs742435	0.84[EUR][1000 genomes]
rs742436	0.84[EUR][1000 genomes]
rs8115484	0.95[EUR][1000 genomes]
rs8115742	0.84[EUR][1000 genomes]
rs8117181	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8117253	0.95[EUR][1000 genomes]
rs8120972	0.95[EUR][1000 genomes]
rs8126111	0.89[AMR][1000 genomes];0.95[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

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs73331863	ZNF337	cis	lung	GTEx
rs73331863	RP4-694B14.5	cis	Thyroid	GTEx
rs73331863	ZNF337	cis	Thyroid	GTEx
rs73331863	RP4-694B14.5	cis	lung	GTEx
rs73331863	RP4-694B14.5	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:25382200-25385600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr20:25383600-25387800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr20:25384200-25388000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr20:25384400-25388000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr20:25384600-25387800	Weak transcription	Adipose Nuclei	Adipose
6	chr20:25384800-25385400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood

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