Variant report

Variant	rs6470312
Chromosome Location	chr8:125900381-125900382
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125900299..125904105-chr8:125905303..125908707,4	MCF-7	breast:
2	chr8:125868459..125870710-chr8:125897640..125900383,2	MCF-7	breast:
3	chr8:125899525..125901305-chr8:125983992..125985873,2	MCF-7	breast:
4	chr8:125893623..125896589-chr8:125899803..125902568,2	MCF-7	breast:
5	chr8:125545642..125547249-chr8:125900302..125903286,2	MCF-7	breast:
6	chr8:125863185..125866167-chr8:125900364..125902687,2	K562	blood:
7	chr8:125825941..125830302-chr8:125896612..125901724,6	K562	blood:

Variant related genes	Relation type
ENSG00000255080	Chromatin interaction
ENSG00000255491	Chromatin interaction
ENSG00000180938	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10956221	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11987831	0.94[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12681718	0.92[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs13252227	0.92[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4871561	0.92[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4871566	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6470295	0.94[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6470297	0.94[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6470299	0.90[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6470301	0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6470304	0.98[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6470310	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6470311	0.88[AFR][1000 genomes]
rs6470315	0.94[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6470316	0.98[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6470317	0.96[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6470318	0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6470325	0.82[AMR][1000 genomes]
rs7011950	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7016723	0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7387254	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7388465	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7461228	0.92[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7463183	0.90[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7464577	0.83[AFR][1000 genomes]
rs7464601	0.92[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7464910	0.86[AMR][1000 genomes]
rs7819873	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7820706	0.98[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7820918	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7821070	0.83[AMR][1000 genomes]
rs7834577	0.96[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7845589	0.90[AMR][1000 genomes];0.84[ASN][1000 genomes]

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	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1030803	chr8:125868684-125969635	Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
3	nsv1024405	chr8:125868684-125971035	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	nsv1020502	chr8:125868684-125972572	Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125898000-125900600	Weak transcription	Fetal Heart	heart
2	chr8:125900000-125901600	Enhancers	K562	blood
3	chr8:125900000-125903200	Enhancers	HMEC	breast
4	chr8:125900200-125900600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr8:125900200-125901600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr8:125900200-125902400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr8:125900200-125902400	Enhancers	NHEK	skin
8	chr8:125900200-125902600	Enhancers	Esophagus	oesophagus
9	chr8:125900200-125903000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr8:125900200-125903200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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