Variant report

Variant	rs7011950
Chromosome Location	chr8:125898723-125898724
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125896919..125899304-chr8:125915805..125917782,2	MCF-7	breast:
2	chr8:125891889..125894813-chr8:125896183..125898744,2	K562	blood:
3	chr8:125893804..125895346-chr8:125896613..125898917,2	MCF-7	breast:
4	chr8:125868459..125870710-chr8:125897640..125900383,2	MCF-7	breast:
5	chr8:125825941..125830302-chr8:125896612..125901724,6	K562	blood:

Variant related genes	Relation type
ENSG00000255491	Chromatin interaction
ENSG00000255080	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:39)

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	0.82[CHB][hapmap];0.92[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs13252227	0.92[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4870929	0.82[CHB][hapmap]
rs4870930	0.81[CHB][hapmap]
rs4871557	0.81[CHB][hapmap]
rs4871559	0.81[CHB][hapmap]
rs4871561	0.81[CHB][hapmap];0.92[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4871566	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4871567	0.81[CHB][hapmap]
rs6470293	0.81[CHB][hapmap]
rs6470295	0.94[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6470297	0.82[CHB][hapmap];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	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6470311	0.88[JPT][hapmap];0.90[YRI][hapmap];0.87[AFR][1000 genomes]
rs6470312	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6470315	1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6470316	1.00[CHB][hapmap];0.98[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6470317	1.00[CHB][hapmap];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]
rs7016723	0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7387254	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7388465	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[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	0.85[AFR][1000 genomes]
rs7464601	0.92[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7464910	0.86[AMR][1000 genomes]
rs7819873	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.98[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7820706	1.00[CHB][hapmap];1.00[JPT][hapmap];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:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125887200-125900200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:125894200-125900200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr8:125898000-125900600	Weak transcription	Fetal Heart	heart

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