Variant report

Variant	rs6470300
Chromosome Location	chr8:125885373-125885374
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:125879365..125882872-chr8:125883741..125886693,4	MCF-7	breast:
2	chr8:125885238..125886912-chr8:125890382..125892259,2	MCF-7	breast:

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10109611	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11987239	0.81[YRI][hapmap]
rs12549398	1.00[EUR][1000 genomes]
rs12549495	1.00[EUR][1000 genomes]
rs12680676	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs13272895	0.81[YRI][hapmap]
rs13282088	0.84[AFR][1000 genomes]
rs13282814	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28416206	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28513518	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28806495	1.00[EUR][1000 genomes]
rs4871558	0.82[CHB][hapmap];0.83[YRI][hapmap]
rs4871560	0.81[YRI][hapmap]
rs57912119	1.00[EUR][1000 genomes]
rs59059860	1.00[EUR][1000 genomes]
rs59234651	1.00[EUR][1000 genomes]
rs6470296	0.81[YRI][hapmap]
rs6470298	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6470302	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6470303	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6470305	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6470306	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6470307	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6470308	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6470311	1.00[CEU][hapmap];0.88[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67108254	1.00[EUR][1000 genomes]
rs67153029	0.97[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs67698519	1.00[EUR][1000 genomes]
rs6984710	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6989386	1.00[EUR][1000 genomes]
rs6992468	0.81[YRI][hapmap]
rs7017632	1.00[EUR][1000 genomes]
rs72718716	1.00[EUR][1000 genomes]
rs72718730	1.00[EUR][1000 genomes]
rs7387480	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7387482	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7461227	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7461393	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7462143	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7462178	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7463173	1.00[EUR][1000 genomes]
rs7463222	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7464577	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7464782	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7465413	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7827416	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9693629	0.84[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs9694845	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9694858	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125882600-125886400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:125884400-125885400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr8:125884400-125885400	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr8:125884400-125885400	Flanking Active TSS	Osteobl	bone
5	chr8:125884400-125885600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:125884400-125885600	Enhancers	NHDF-Ad	bronchial
7	chr8:125884600-125885400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr8:125884600-125885400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr8:125884600-125885600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr8:125884600-125885600	Enhancers	NHLF	lung
11	chr8:125884800-125885400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr8:125884800-125885400	Enhancers	Brain Cingulate Gyrus	brain
13	chr8:125884800-125885400	Enhancers	Fetal Lung	lung
14	chr8:125884800-125885400	Enhancers	Right Atrium	heart
15	chr8:125885000-125885400	Enhancers	Brain Angular Gyrus	brain
16	chr8:125885000-125885400	Enhancers	Brain Hippocampus Middle	brain
17	chr8:125885000-125885400	Enhancers	Left Ventricle	heart
18	chr8:125885000-125885400	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr8:125885000-125885600	Enhancers	Brain Germinal Matrix	brain
20	chr8:125885200-125885600	Enhancers	Colon Smooth Muscle	Colon
21	chr8:125885200-125885600	Enhancers	Esophagus	oesophagus
22	chr8:125885200-125885600	Enhancers	Fetal Brain Male	brain

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