Variant report

Variant	rs10204616
Chromosome Location	chr2:57980955-57980956
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr2:57980833-57981117	HepG2	liver:	n/a	chr2:57980963-57980983 chr2:57980970-57980979 chr2:57980965-57980981 chr2:57980968-57980983 chr2:57980969-57980979
2	POLR2A	chr2:57980900-57980977	MCF10A-Er-Src	breast:	n/a	n/a
3	MAFK	chr2:57980859-57981139	IMR90	lung:	n/a	chr2:57980963-57980983 chr2:57980970-57980979 chr2:57980965-57980981 chr2:57980968-57980983 chr2:57980969-57980979
4	MAFK	chr2:57980826-57981148	HepG2	liver:	n/a	chr2:57980963-57980983 chr2:57980970-57980979 chr2:57980965-57980981 chr2:57980968-57980983 chr2:57980969-57980979
5	MAFF	chr2:57980849-57981126	HepG2	liver:	n/a	chr2:57980967-57980985

Variant related genes	Relation type
ENSG00000271615	TF binding region

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10186791	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10195687	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10196378	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1040224	0.80[JPT][hapmap]
rs1040225	0.80[JPT][hapmap]
rs10496076	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10496078	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10496079	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10865304	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1106302	0.85[JPT][hapmap]
rs11898858	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12713358	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12990792	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12997222	0.90[AMR][1000 genomes]
rs13402331	0.85[EUR][1000 genomes]
rs13418015	0.86[EUR][1000 genomes]
rs1402398	0.82[EUR][1000 genomes]
rs1460255	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1568450	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1589407	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2090793	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2290867	0.86[EUR][1000 genomes]
rs2465804	0.80[JPT][hapmap]
rs2678870	0.80[JPT][hapmap]
rs2678880	0.82[CEU][hapmap]
rs2678901	0.80[JPT][hapmap]
rs2678903	0.80[JPT][hapmap]
rs2678905	0.80[JPT][hapmap]
rs2678906	0.80[JPT][hapmap]
rs2678908	0.82[CEU][hapmap]
rs2683614	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2683616	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2683619	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2683620	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2683628	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2683629	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2717001	0.82[CEU][hapmap]
rs2717002	0.82[CEU][hapmap]
rs2717004	0.80[JPT][hapmap]
rs2717006	0.86[CEU][hapmap];0.80[JPT][hapmap]
rs2717018	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2717019	0.80[JPT][hapmap]
rs2717043	0.80[JPT][hapmap]
rs2717048	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2717075	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2953439	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2953441	0.82[EUR][1000 genomes]
rs3886275	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4296411	0.85[AMR][1000 genomes]
rs4672223	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6545663	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6545664	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6545665	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6720888	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6730037	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6737913	0.90[AMR][1000 genomes]
rs6756221	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6761347	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7561842	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7588492	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7598169	0.82[EUR][1000 genomes]
rs970941	0.85[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007118	chr2:57562051-58147588	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv874193	chr2:57758608-58066673	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1006688	chr2:57822953-58030203	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv874196	chr2:57946148-58220320	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv874197	chr2:57978858-58068741	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv834148	chr2:57979661-58119213	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:57979000-57983400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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