Variant report

Variant	rs58842562
Chromosome Location	chr8:10385922-10385923
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	RUNX3	chr8:10385830-10386470	GM12878	blood:	n/a	n/a
2	NFIC	chr8:10385862-10386404	GM12878	blood:	n/a	n/a
3	ELF1	chr8:10385810-10386710	GM12878	blood:	n/a	n/a
4	MAFK	chr8:10385819-10386149	HepG2	liver:	n/a	chr8:10386054-10386064 chr8:10386050-10386066 chr8:10385976-10385987 chr8:10385971-10385986 chr8:10385971-10385987 chr8:10385976-10385987 chr8:10386051-10386065 chr8:10385974-10385988 chr8:10385975-10385986
5	MAFF	chr8:10385841-10386119	K562	blood:	n/a	chr8:10385970-10385988 chr8:10386051-10386065
6	MAFF	chr8:10385798-10386163	HepG2	liver:	n/a	chr8:10385970-10385988 chr8:10386051-10386065
7	MAFK	chr8:10385822-10386115	K562	blood:	n/a	chr8:10386054-10386064 chr8:10386050-10386066 chr8:10385976-10385987 chr8:10385971-10385986 chr8:10385971-10385987 chr8:10385976-10385987 chr8:10386051-10386065 chr8:10385974-10385988 chr8:10385975-10385986
8	MAFK	chr8:10385832-10386114	IMR90	lung:	n/a	chr8:10386054-10386064 chr8:10386050-10386066 chr8:10385976-10385987 chr8:10385971-10385986 chr8:10385971-10385987 chr8:10385976-10385987 chr8:10386051-10386065 chr8:10385974-10385988 chr8:10385975-10385986
9	PML	chr8:10385875-10386316	GM12878	blood:	n/a	n/a
10	IRF4	chr8:10385895-10386296	GM12878	blood:	n/a	n/a
11	MAFK	chr8:10385798-10386154	HepG2	liver:	n/a	chr8:10386054-10386064 chr8:10386050-10386066 chr8:10385976-10385987 chr8:10385971-10385986 chr8:10385971-10385987 chr8:10385976-10385987 chr8:10386051-10386065 chr8:10385974-10385988 chr8:10385975-10385986

Variant related genes	Relation type
PRSS55	TF binding region

Extended variants
information (count: 65 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10108562	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11774008	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11775794	1.00[ASN][1000 genomes]
rs11776423	1.00[ASN][1000 genomes]
rs11776454	1.00[ASN][1000 genomes]
rs11777184	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11778788	1.00[ASN][1000 genomes]
rs11778815	1.00[ASN][1000 genomes]
rs11779652	1.00[ASN][1000 genomes]
rs11780167	1.00[ASN][1000 genomes]
rs11780436	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11780868	1.00[ASN][1000 genomes]
rs11781718	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11783577	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11783848	1.00[ASN][1000 genomes]
rs11785876	1.00[ASN][1000 genomes]
rs11786688	1.00[ASN][1000 genomes]
rs11787384	1.00[ASN][1000 genomes]
rs11787493	1.00[ASN][1000 genomes]
rs13249905	1.00[ASN][1000 genomes]
rs17151969	1.00[ASN][1000 genomes]
rs28361533	1.00[ASN][1000 genomes]
rs28577240	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34994999	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4320513	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4591993	1.00[ASN][1000 genomes]
rs4840494	1.00[ASN][1000 genomes]
rs4840495	1.00[ASN][1000 genomes]
rs4840496	1.00[ASN][1000 genomes]
rs4841364	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4841367	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4841379	1.00[ASN][1000 genomes]
rs4841390	1.00[ASN][1000 genomes]
rs4841394	1.00[ASN][1000 genomes]
rs4841395	1.00[ASN][1000 genomes]
rs4841397	1.00[ASN][1000 genomes]
rs4841400	1.00[ASN][1000 genomes]
rs4841406	1.00[ASN][1000 genomes]
rs56096665	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60930396	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61743179	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6601486	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6981847	1.00[ASN][1000 genomes]
rs7006052	1.00[ASN][1000 genomes]
rs73662849	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73662851	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73662852	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73662853	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73662854	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73662855	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73662857	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73662858	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73662860	0.87[EUR][1000 genomes]
rs7846306	1.00[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	nsv1030934	chr8:10065169-10561161	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1022994	chr8:10190618-10660122	Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv539466	chr8:10190618-10660122	Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1025557	chr8:10216726-10555187	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv917085	chr8:10237508-10828204	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv610267	chr8:10268736-10526742	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv1030856	chr8:10303099-10439064	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv610268	chr8:10331636-10486652	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
9	nsv1025251	chr8:10343591-10488557	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
10	nsv1015932	chr8:10357101-10597856	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
11	nsv1026918	chr8:10359634-10390452	Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10383200-10386800	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr8:10383400-10392200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr8:10384000-10386200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:10384000-10387600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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