Variant report

Variant	rs6472307
Chromosome Location	chr8:68372000-68372001
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:68253911..68256043-chr8:68370429..68372579,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000066777	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10091514	0.82[EUR][1000 genomes]
rs10100536	0.82[EUR][1000 genomes]
rs10957389	1.00[JPT][hapmap]
rs11984622	1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap]
rs11994817	1.00[JPT][hapmap]
rs12115004	1.00[JPT][hapmap];1.00[TSI][hapmap]
rs1393897	0.81[ASN][1000 genomes]
rs1566769	0.85[ASN][1000 genomes]
rs16933277	0.82[EUR][1000 genomes]
rs16933341	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs1812678	1.00[JPT][hapmap]
rs28502563	0.82[EUR][1000 genomes]
rs3824270	1.00[JPT][hapmap]
rs4386963	1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.81[ASN][1000 genomes]
rs57070848	0.85[ASN][1000 genomes]
rs57438989	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57714056	0.81[ASN][1000 genomes]
rs58637111	0.85[ASN][1000 genomes]
rs59607772	0.81[ASN][1000 genomes]
rs60606572	0.85[ASN][1000 genomes]
rs61220075	0.81[ASN][1000 genomes]
rs61403252	0.82[EUR][1000 genomes]
rs6415606	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6472300	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6472301	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6472302	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6472303	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6472306	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6472308	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6472314	1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap]
rs6988019	0.82[EUR][1000 genomes]
rs6992371	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7005010	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7009065	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7018199	1.00[JPT][hapmap];1.00[TSI][hapmap]
rs73258696	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73258699	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73262605	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73262624	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73262636	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73262638	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73262648	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73262665	0.85[ASN][1000 genomes]
rs73262669	0.85[ASN][1000 genomes]
rs73262675	0.85[ASN][1000 genomes]
rs73262680	0.81[ASN][1000 genomes]
rs73262681	0.85[ASN][1000 genomes]
rs73262685	0.85[ASN][1000 genomes]
rs73262686	0.85[ASN][1000 genomes]
rs73262688	0.85[ASN][1000 genomes]
rs73262691	0.81[ASN][1000 genomes]
rs73262695	0.81[ASN][1000 genomes]
rs73262696	0.81[ASN][1000 genomes]
rs7815213	0.85[ASN][1000 genomes]
rs7824691	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7839073	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7842960	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7843818	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7844794	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs966594	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752263	chr8:68170946-68788493	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1024135	chr8:68235792-68629789	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv539642	chr8:68235792-68629789	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv2752264	chr8:68244546-68647201	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 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	chr8:68369200-68372200	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr8:68370200-68390200	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr8:68371800-68372600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:68372000-68373200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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