Variant report

Variant	rs16887017
Chromosome Location	chr7:80814572-80814573
allele	C/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	SPI1	chr7:80814474-80814647	GM12891	blood:	n/a	chr7:80814549-80814558 chr7:80814552-80814565
2	EP300	chr7:80814441-80814734	GM12878	blood:	n/a	chr7:80814503-80814513 chr7:80814549-80814563 chr7:80814556-80814570
3	RUNX3	chr7:80814435-80814683	GM12878	blood:	n/a	n/a
4	SPI1	chr7:80814421-80814670	GM12891	blood:	n/a	chr7:80814549-80814558 chr7:80814552-80814565
5	BHLHE40	chr7:80814503-80814642	GM12878	blood:	n/a	n/a
6	SPI1	chr7:80814440-80814686	GM12878	blood:	n/a	chr7:80814549-80814558 chr7:80814552-80814565
7	EP300	chr7:80814468-80814650	GM12878	blood:	n/a	chr7:80814503-80814513 chr7:80814549-80814563 chr7:80814556-80814570
8	TBP	chr7:80814557-80814593	GM12878	blood:	n/a	n/a
9	SPI1	chr7:80814485-80814634	GM12878	blood:	n/a	chr7:80814549-80814558 chr7:80814552-80814565
10	EP300	chr7:80814507-80814659	GM12878	blood:	n/a	chr7:80814549-80814563 chr7:80814556-80814570

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:80548435..80550350-chr7:80813440..80816113,2	MCF-7	breast:
2	chr7:80814459..80816585-chr7:80820535..80822781,3	K562	blood:

Variant related genes	Relation type
ENSG00000237896	TF binding region
ENSG00000226671	Chromatin interaction
ENSG00000075223	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1024548	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10264882	0.88[CEU][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10272094	0.87[ASN][1000 genomes]
rs11972689	0.84[CEU][hapmap];0.91[EUR][1000 genomes]
rs11974102	0.92[EUR][1000 genomes]
rs11975023	0.94[EUR][1000 genomes]
rs11975948	0.92[EUR][1000 genomes]
rs11976314	0.89[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes]
rs11977048	0.89[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes]
rs12666916	0.91[EUR][1000 genomes]
rs13242185	0.85[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1397008	0.92[EUR][1000 genomes]
rs1397009	0.87[EUR][1000 genomes]
rs1509912	0.91[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes]
rs1605917	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17616148	0.95[CEU][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1859678	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs327703	0.81[CEU][hapmap]
rs327704	0.89[CEU][hapmap];0.82[EUR][1000 genomes]
rs327705	0.81[CEU][hapmap]
rs327710	0.88[CEU][hapmap]
rs34252288	0.89[EUR][1000 genomes]
rs35141375	0.90[EUR][1000 genomes]
rs56034302	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62467422	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6467590	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6967382	0.87[EUR][1000 genomes]
rs6967567	0.87[EUR][1000 genomes]
rs7776566	0.91[EUR][1000 genomes]
rs7778696	0.92[EUR][1000 genomes]
rs7779992	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7788722	0.85[EUR][1000 genomes]
rs7794312	0.91[EUR][1000 genomes]
rs7794577	0.92[EUR][1000 genomes]
rs7794595	0.92[EUR][1000 genomes]
rs7795202	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7797263	0.89[CEU][hapmap];0.87[EUR][1000 genomes]
rs7798421	0.92[EUR][1000 genomes]
rs7802063	0.89[EUR][1000 genomes]
rs7809013	0.92[EUR][1000 genomes]
rs7810096	0.92[EUR][1000 genomes]
rs980966	0.84[CEU][hapmap];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	nsv888557	chr7:80813081-80917148	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 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	chr7:80812800-80816600	Weak transcription	Right Ventricle	heart

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