Variant report

Variant	rs12680676
Chromosome Location	chr8:125884030-125884031
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125876735..125880494-chr8:125880552..125885100,4	K562	blood:
2	chr8:125882022..125884684-chr8:125903554..125905435,2	K562	blood:
3	chr8:125877925..125881102-chr8:125882727..125885100,3	K562	blood:
4	chr8:125882022..125884684-chr8:125903554..125906736,3	K562	blood:
5	chr8:125879365..125882872-chr8:125883741..125886693,4	MCF-7	breast:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10109611	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs13282088	0.87[AFR][1000 genomes]
rs13282814	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs28416206	0.91[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs28513518	0.91[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6470298	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6470300	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6470302	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6470303	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6470305	0.91[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6470306	0.91[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6470307	0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6470308	0.90[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6470311	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs67153029	0.93[AFR][1000 genomes]
rs6984710	0.81[AMR][1000 genomes]
rs7387480	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7387482	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7461227	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7461393	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7462143	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7462178	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7463222	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7464577	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7464782	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7465413	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7827416	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9693629	0.81[AFR][1000 genomes]
rs9694845	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs9694858	0.81[AMR][1000 genomes];0.89[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:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125871000-125885200	Weak transcription	Esophagus	oesophagus
2	chr8:125874400-125884800	Weak transcription	Right Atrium	heart
3	chr8:125879400-125884600	Weak transcription	HSMMtube	muscle
4	chr8:125879600-125884400	Weak transcription	HSMM	muscle
5	chr8:125879600-125884400	Weak transcription	Osteobl	bone
6	chr8:125879600-125884600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr8:125879800-125884400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr8:125879800-125884400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr8:125879800-125884400	Weak transcription	NHDF-Ad	bronchial
10	chr8:125879800-125884400	Weak transcription	NHEK	skin
11	chr8:125879800-125884600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr8:125879800-125884600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr8:125879800-125884600	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr8:125880000-125884400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr8:125880600-125884600	Weak transcription	NHLF	lung
16	chr8:125880800-125884400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr8:125880800-125885000	Weak transcription	Left Ventricle	heart
18	chr8:125882600-125886400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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