Variant report

Variant	rs6471975
Chromosome Location	chr8:62789876-62789877
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	CEBPB	chr8:62789233-62789911	HCT-116	colon:	n/a	chr8:62789825-62789837
2	FOSL1	chr8:62789099-62789884	HCT-116	colon:	n/a	chr8:62789504-62789512 chr8:62789502-62789509 chr8:62789502-62789514 chr8:62789500-62789511

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:62678761..62681544-chr8:62788290..62791264,2	K562	blood:
2	chr8:62599050..62601390-chr8:62788513..62790714,2	K562	blood:

Variant related genes	Relation type
ENSG00000254119	TF binding region

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10088053	1.00[ASN][1000 genomes]
rs16928033	1.00[ASN][1000 genomes]
rs16928035	1.00[ASN][1000 genomes]
rs28377818	0.80[EUR][1000 genomes]
rs28379606	0.80[EUR][1000 genomes]
rs28400370	0.80[EUR][1000 genomes]
rs28558888	0.80[EUR][1000 genomes]
rs28793274	1.00[ASN][1000 genomes]
rs344281	0.80[EUR][1000 genomes]
rs344307	0.82[EUR][1000 genomes]
rs344310	0.80[EUR][1000 genomes]
rs56016636	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56125512	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56235963	0.85[AFR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56741469	0.81[EUR][1000 genomes]
rs56830160	0.83[AFR][1000 genomes]
rs57344387	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58080416	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58710029	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58960042	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59120662	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60520860	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61568322	0.81[EUR][1000 genomes]
rs62507583	0.83[AFR][1000 genomes]
rs62507585	0.83[AFR][1000 genomes]
rs66667350	1.00[ASN][1000 genomes]
rs67870277	1.00[ASN][1000 genomes]
rs6991008	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7008718	1.00[ASN][1000 genomes]
rs7012432	1.00[ASN][1000 genomes]
rs7012678	1.00[ASN][1000 genomes]
rs73255128	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73255147	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73255155	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73255157	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73255189	0.80[EUR][1000 genomes]
rs73682603	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73682605	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73685132	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73685137	0.81[EUR][1000 genomes]
rs73685139	0.81[EUR][1000 genomes]
rs73685145	0.81[EUR][1000 genomes]
rs73685148	0.81[EUR][1000 genomes]
rs73685149	0.81[EUR][1000 genomes]
rs73685158	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73685159	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7820373	1.00[CEU][hapmap];0.88[MKK][hapmap];0.83[TSI][hapmap];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024432	chr8:62086247-62898782	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv932198	chr8:62336705-62914562	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	esv2761430	chr8:62517980-62873803	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1015216	chr8:62517980-62873803	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv611427	chr8:62733267-62848952	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv831338	chr8:62736394-62913048	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1032414	chr8:62789246-62861376	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62787600-62791600	Enhancers	K562	blood
2	chr8:62788600-62790400	Enhancers	Hela-S3	cervix
3	chr8:62788800-62790600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr8:62789200-62790400	Enhancers	Fetal Brain Male	brain
5	chr8:62789200-62790400	Enhancers	A549	lung
6	chr8:62789800-62791200	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr8:62789800-62791800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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