Variant report

Variant	rs6574684
Chromosome Location	chr14:82246954-82246955
allele	A/G
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	MAFF	chr14:82246606-82246974	HepG2	liver:	n/a	chr14:82246780-82246798
2	MAFK	chr14:82246607-82246977	HepG2	liver:	n/a	chr14:82246782-82246797
3	MAFK	chr14:82246605-82246974	IMR90	lung:	n/a	chr14:82246782-82246797
4	MAFK	chr14:82246622-82246970	HepG2	liver:	n/a	chr14:82246782-82246797

Variant related genes	Relation type
ENSG00000241891	TF binding region

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10131470	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10131763	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10135732	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10139581	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs10144608	0.80[ASN][1000 genomes]
rs10150481	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs11849949	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12435077	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1952367	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1958188	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1958191	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1958192	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1958193	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1958194	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2104653	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2149287	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2209887	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2371897	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2371899	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2371900	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28437389	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2888185	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35772800	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4904029	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4904030	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4904031	0.82[EUR][1000 genomes]
rs61986145	0.80[ASN][1000 genomes]
rs6574685	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7145508	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7147297	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7147452	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7147854	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8015458	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8021711	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9323715	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs965817	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047694	chr14:81831147-82534026	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv542145	chr14:81831147-82534026	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv565299	chr14:81983027-82586324	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv1052666	chr14:82069162-83028382	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv456347	chr14:82174341-82661389	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv565300	chr14:82174341-82661389	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1042626	chr14:82188141-82663597	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv1052385	chr14:82190891-82666070	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv542146	chr14:82190891-82666070	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv525823	chr14:82219550-82267945	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	esv3399759	chr14:82233469-82554259	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:82241000-82248000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr14:82243800-82250200	Weak transcription	Aorta	Aorta
3	chr14:82245600-82249800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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