Variant report

Variant	rs202002
Chromosome Location	chr8:39633965-39633966
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	MAFK	chr8:39633880-39634239	IMR90	lung:	n/a	chr8:39634050-39634067 chr8:39634132-39634143
2	GATA3	chr8:39633803-39635157	MCF-7	breast:	n/a	chr8:39634266-39634282
3	MAFF	chr8:39633918-39634211	K562	blood:	n/a	n/a
4	MAFF	chr8:39633887-39634235	HepG2	liver:	n/a	n/a
5	MAFK	chr8:39633880-39634237	HepG2	liver:	n/a	chr8:39634050-39634067 chr8:39634132-39634143
6	MAFK	chr8:39633950-39634106	K562	blood:	n/a	chr8:39634050-39634067
7	MAFK	chr8:39633886-39634232	HepG2	liver:	n/a	chr8:39634050-39634067 chr8:39634132-39634143

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:39629008..39630969-chr8:39633550..39635113,2	K562	blood:
2	chr8:39629924..39632128-chr8:39633892..39635911,2	MCF-7	breast:

Variant related genes	Relation type
ADAM2	TF binding region

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10096592	1.00[EUR][1000 genomes]
rs10096983	1.00[EUR][1000 genomes]
rs11989147	1.00[EUR][1000 genomes]
rs11990694	1.00[EUR][1000 genomes]
rs11996873	1.00[EUR][1000 genomes]
rs1376728	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1451737	1.00[EUR][1000 genomes]
rs1451744	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1901387	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs202005	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs202008	0.90[AFR][1000 genomes]
rs202009	0.90[AFR][1000 genomes]
rs202010	0.82[AFR][1000 genomes]
rs202015	0.90[AFR][1000 genomes]
rs2122991	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs3974327	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs453419	0.87[AFR][1000 genomes]
rs57403655	1.00[EUR][1000 genomes]
rs6983759	1.00[EUR][1000 genomes]
rs6987500	1.00[EUR][1000 genomes]
rs7005051	1.00[EUR][1000 genomes]
rs7836547	1.00[EUR][1000 genomes]
rs7837269	1.00[EUR][1000 genomes]
rs896472	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015907	chr8:38967169-39718559	Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv539550	chr8:38967169-39718559	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv890833	chr8:39405337-39664696	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv890836	chr8:39480366-39650940	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv890839	chr8:39553261-39664696	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv890840	chr8:39597328-39664696	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv981871	chr8:39629048-39644956	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv972582	chr8:39633744-39642252	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 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	chr8:39623800-39634200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:39633800-39634200	Enhancers	H1 Cell Line	embryonic stem cell
3	chr8:39633800-39634400	Enhancers	HUES48 Cell Line	embryonic stem cell

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