Variant report

Variant	rs621590
Chromosome Location	chr1:77100921-77100922
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	MAFF	chr1:77100624-77100964	HepG2	liver:	n/a	chr1:77100785-77100803
2	MAFK	chr1:77100619-77100976	HepG2	liver:	n/a	chr1:77100792-77100802
3	MAFK	chr1:77100654-77100952	HepG2	liver:	n/a	chr1:77100792-77100802
4	MAFK	chr1:77100631-77100957	IMR90	lung:	n/a	chr1:77100792-77100802
5	MAFK	chr1:77100654-77100951	K562	blood:	n/a	chr1:77100792-77100802

Variant related genes	Relation type
ENSG00000272855	TF binding region

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1173686	0.91[ASN][1000 genomes]
rs1184626	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs341023	0.81[ASN][1000 genomes]
rs341026	0.93[ASN][1000 genomes]
rs484299	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs550021	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs563768	0.80[ASN][1000 genomes]
rs564853	0.86[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs587021	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs601818	0.86[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs604078	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs608880	0.88[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs628482	0.83[ASN][1000 genomes]
rs636038	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs650427	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs657522	0.85[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs657871	0.86[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs658026	0.86[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs658035	0.87[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs673048	0.86[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs674836	0.86[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs676269	0.91[ASN][1000 genomes]
rs677158	0.82[ASN][1000 genomes]
rs680970	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs683148	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs687569	0.86[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs689423	0.85[ASN][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	nsv997827	chr1:76929028-77201457	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1003826	chr1:76965331-77656929	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv535006	chr1:76965331-77656929	Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv526433	chr1:77030764-77268215	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv508315	chr1:77040085-77134730	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1001253	chr1:77077660-77234093	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	esv3416302	chr1:77099714-77101662	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases
8	esv2437446	chr1:77099856-77101457	Flanking Active TSS Weak transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:77098600-77106200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:77100200-77102800	Enhancers	Primary T cells from cord blood	blood

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