Variant report

Variant	rs6470295
Chromosome Location	chr8:125878001-125878002
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125794468..125796266-chr8:125877977..125879830,2	MCF-7	breast:
2	chr8:125876735..125880494-chr8:125880552..125885100,4	K562	blood:
3	chr8:125877925..125881102-chr8:125882727..125885100,3	K562	blood:
4	chr8:125877381..125879616-chr8:125926000..125927902,2	MCF-7	breast:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10956221	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11987831	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12681718	0.98[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13252227	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4870929	0.91[ASN][1000 genomes]
rs4870930	0.91[ASN][1000 genomes]
rs4871557	0.91[ASN][1000 genomes]
rs4871559	0.91[ASN][1000 genomes]
rs4871561	0.98[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4871566	0.96[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6470291	0.91[ASN][1000 genomes]
rs6470293	0.91[ASN][1000 genomes]
rs6470297	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6470299	0.96[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6470301	0.96[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6470304	0.96[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6470310	0.94[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6470312	0.94[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6470315	0.92[AMR][1000 genomes]
rs6470316	0.92[AMR][1000 genomes]
rs6470317	0.90[AMR][1000 genomes]
rs6470318	0.82[AMR][1000 genomes]
rs6470325	0.87[AMR][1000 genomes]
rs7011950	0.94[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7016723	0.96[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7387254	0.94[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7388465	0.94[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7459652	0.91[ASN][1000 genomes]
rs7461228	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7462073	0.88[AFR][1000 genomes]
rs7463183	0.96[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7463584	0.85[AMR][1000 genomes]
rs7463657	0.91[ASN][1000 genomes]
rs7464601	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7464910	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7819873	0.92[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7820706	0.92[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7820918	0.91[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7821070	0.81[AMR][1000 genomes]
rs7834577	0.90[AMR][1000 genomes]
rs7845589	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9987227	0.88[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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125869800-125878200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr8:125870200-125879000	Weak transcription	Fetal Heart	heart
3	chr8:125870600-125879200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr8:125871000-125885200	Weak transcription	Esophagus	oesophagus
5	chr8:125873800-125878200	Weak transcription	K562	blood
6	chr8:125873800-125880200	Weak transcription	Left Ventricle	heart
7	chr8:125874400-125884800	Weak transcription	Right Atrium	heart
8	chr8:125874600-125878600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr8:125874800-125879200	Weak transcription	Right Ventricle	heart
10	chr8:125875000-125878200	Weak transcription	Osteobl	bone
11	chr8:125875000-125878400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr8:125875400-125878200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr8:125875600-125878200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr8:125877000-125879800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr8:125877000-125879800	Enhancers	NHDF-Ad	bronchial
16	chr8:125878000-125878400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr8:125878000-125878400	Enhancers	Muscle Satellite Cultured Cells	--
18	chr8:125878000-125879400	Enhancers	HSMMtube	muscle
19	chr8:125878000-125879600	Enhancers	HSMM	muscle
20	chr8:125878000-125879600	Enhancers	NH-A	brain
21	chr8:125878000-125879800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr8:125878000-125879800	Enhancers	HMEC	breast
23	chr8:125878000-125879800	Enhancers	NHEK	skin
24	chr8:125878000-125880000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr8:125878000-125880600	Enhancers	NHLF	lung
26	chr8:125878000-125881000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr8:125878000-125881000	Enhancers	Monocytes-CD14+_RO01746	blood

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