Variant report

Variant	rs600996
Chromosome Location	chr6:4189651-4189652
allele	C/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	SPI1	chr6:4189612-4189804	K562	blood:	n/a	n/a
2	SPI1	chr6:4189569-4189819	GM12878	blood:	n/a	n/a
3	ZNF263	chr6:4189630-4190214	HEK293-T-REx	kidney:	n/a	n/a

Variant related genes	Relation type
ENSG00000237716	TF binding region

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11242900	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1204963	0.85[AMR][1000 genomes]
rs1537717	0.80[AMR][1000 genomes]
rs2326411	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2810797	0.82[AMR][1000 genomes]
rs599711	0.95[AMR][1000 genomes]
rs603272	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs604334	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs604426	0.95[AMR][1000 genomes]
rs604824	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs606737	0.87[AMR][1000 genomes]
rs613546	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs615712	0.88[MEX][hapmap];0.88[AMR][1000 genomes]
rs618721	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs622774	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs629763	0.87[AMR][1000 genomes]
rs647415	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs650359	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs666105	0.94[MEX][hapmap];0.83[TSI][hapmap];0.88[AMR][1000 genomes]
rs668666	0.90[AMR][1000 genomes]
rs671199	0.84[AMR][1000 genomes]
rs675276	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs685231	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6938093	0.80[AMR][1000 genomes]
rs72850108	0.87[EUR][1000 genomes]
rs7758854	0.91[ASN][1000 genomes]
rs9392561	1.00[ASW][hapmap];0.94[CEU][hapmap];0.86[CHB][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.88[MEX][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9392569	0.91[ASN][1000 genomes]
rs9405709	0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022968	chr6:3862744-4272502	Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv538106	chr6:3862744-4272502	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv1030104	chr6:4062894-4240269	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer 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	24 gene(s)	inside rSNPs	diseases
4	esv2422231	chr6:4100333-4233454	Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	esv2422457	chr6:4100333-4377396	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 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	chr6:4188400-4190200	Weak transcription	K562	blood
2	chr6:4189200-4191600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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