Variant report

Variant	rs1397008
Chromosome Location	chr7:80811186-80811187
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:80811160..80813261-chr7:80817973..80820541,2	K562	blood:
2	chr7:80507279..80509626-chr7:80810573..80812155,2	MCF-7	breast:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1024548	0.91[EUR][1000 genomes]
rs10264882	0.92[EUR][1000 genomes]
rs11972689	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11974102	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11975023	0.86[EUR][1000 genomes]
rs11975948	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11976314	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11977048	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12111861	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12666916	0.83[EUR][1000 genomes]
rs13242185	0.92[EUR][1000 genomes]
rs1397009	0.94[EUR][1000 genomes]
rs1509912	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1605917	0.93[EUR][1000 genomes]
rs16887017	0.92[EUR][1000 genomes]
rs17616148	0.92[EUR][1000 genomes]
rs1859678	0.89[EUR][1000 genomes]
rs327704	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs327705	0.84[EUR][1000 genomes]
rs327710	0.81[EUR][1000 genomes]
rs34252288	0.85[EUR][1000 genomes]
rs35141375	0.89[EUR][1000 genomes]
rs56034302	0.92[EUR][1000 genomes]
rs62467422	0.94[EUR][1000 genomes]
rs6467590	0.92[EUR][1000 genomes]
rs6967382	0.94[EUR][1000 genomes]
rs6967567	0.94[EUR][1000 genomes]
rs7776566	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7778696	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7779992	0.94[EUR][1000 genomes]
rs7788722	0.91[EUR][1000 genomes]
rs7794312	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7794577	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7794595	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7795202	0.94[EUR][1000 genomes]
rs7797263	0.94[EUR][1000 genomes]
rs7798421	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7802063	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7809013	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7810096	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs980966	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034690	chr7:80520004-80987682	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv831044	chr7:80721773-80918591	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80803800-80819800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:80805000-80819800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr7:80808600-80811600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
4	chr7:80810000-80811800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr7:80810600-80811200	Enhancers	HepG2	liver

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