Variant report

Variant	rs6992262
Chromosome Location	chr8:3554130-3554131
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	chr8:3554112-3554768	K562	blood:	n/a	chr8:3554142-3554160 chr8:3554623-3554641
2	MAFK	chr8:3553998-3554816	HepG2	liver:	n/a	chr8:3554634-3554649 chr8:3554619-3554639 chr8:3554637-3554651
3	MAFF	chr8:3554058-3554247	HepG2	liver:	n/a	chr8:3554142-3554160
4	MAFK	chr8:3553979-3554803	HepG2	liver:	n/a	chr8:3554634-3554649 chr8:3554619-3554639 chr8:3554637-3554651

Variant related genes	Relation type
RNA5SP251	TF binding region

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10091302	0.83[CEU][hapmap];0.90[CHB][hapmap];0.86[JPT][hapmap];0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10092362	0.83[CEU][hapmap];0.90[CHB][hapmap];0.86[JPT][hapmap];0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10095969	0.89[CHB][hapmap];0.94[JPT][hapmap]
rs10109819	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10112162	0.80[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12541682	0.82[JPT][hapmap]
rs13253574	0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs13256218	0.90[CHB][hapmap];0.95[JPT][hapmap]
rs13264352	0.90[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs13273248	0.86[CHB][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs13273563	0.80[ASN][1000 genomes]
rs17067066	0.83[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs17326670	0.82[JPT][hapmap]
rs2291212	0.82[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2291215	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs2407122	0.90[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs35962478	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4242518	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs4304341	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4348525	0.83[CEU][hapmap];0.85[CHB][hapmap];0.86[JPT][hapmap];0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4355797	0.83[CEU][hapmap];0.90[CHB][hapmap];0.86[JPT][hapmap];0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4355798	0.83[CEU][hapmap];0.82[CHB][hapmap];0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4433172	0.87[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4443681	0.83[ASN][1000 genomes]
rs4498582	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4518695	0.91[CHB][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs4618717	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4875253	0.85[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs4875254	0.86[CHB][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs4875772	0.85[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs5003044	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs5003045	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs5003046	0.83[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs5003047	0.83[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs5003048	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs5003049	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs5022453	0.83[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs62474754	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6984538	0.83[CEU][hapmap];0.91[CHB][hapmap];0.82[JPT][hapmap]
rs7003458	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs7005492	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs7008391	0.87[CEU][hapmap];0.90[CHB][hapmap];0.82[JPT][hapmap]
rs7012632	0.80[CHB][hapmap]
rs73185357	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs73185372	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7462890	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7826370	0.85[CHB][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs7845193	0.83[ASN][1000 genomes]
rs876061	0.87[CEU][hapmap];0.86[CHB][hapmap];0.82[JPT][hapmap]
rs878490	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs900097	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs900098	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs900099	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9314503	0.91[CHB][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025209	chr8:3067655-3754882	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1026998	chr8:3102679-3593264	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1034076	chr8:3168033-3989947	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv539351	chr8:3168033-3989947	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1017164	chr8:3174168-4026811	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv539352	chr8:3174168-4026811	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1018218	chr8:3180287-4089011	Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv1028926	chr8:3318340-3667389	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
9	nsv539353	chr8:3318340-3667389	Enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
10	nsv831211	chr8:3504660-3660294	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
11	nsv1017752	chr8:3530971-3754478	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
12	nsv539355	chr8:3530971-3754478	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
13	nsv1025204	chr8:3542586-3889592	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
14	nsv539356	chr8:3542586-3889592	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
15	nsv1022343	chr8:3553701-3578650	Enhancers Weak transcription Bivalent/Poised TSS	TF binding region	2 gene(s)	inside rSNPs	diseases
16	nsv1015250	chr8:3553750-3565109	Weak transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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