Variant report

Variant	rs6470297
Chromosome Location	chr8:125880850-125880851
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	chr8:125878085..125882426-chr8:125889275..125893034,5	MCF-7	breast:
3	chr8:125879365..125882872-chr8:125883741..125886693,4	MCF-7	breast:
4	chr8:125738820..125741858-chr8:125878076..125881062,3	MCF-7	breast:
5	chr8:125865612..125869079-chr8:125880242..125881990,3	K562	blood:
6	chr8:125867579..125869435-chr8:125880490..125882820,2	K562	blood:
7	chr8:125877925..125881102-chr8:125882727..125885100,3	K562	blood:

Variant related genes	Relation type
ENSG00000170873	Chromatin interaction

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	1.00[CHB][hapmap];1.00[JPT][hapmap];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	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4870930	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4871557	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4871559	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[ASN][1000 genomes]
rs4871561	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4871566	0.81[CHB][hapmap];0.96[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6470291	0.91[ASN][1000 genomes]
rs6470293	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs6470295	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	0.82[CHB][hapmap];0.94[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6470312	0.94[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6470315	0.82[CHB][hapmap];0.92[AMR][1000 genomes]
rs6470316	0.82[CHB][hapmap];0.92[AMR][1000 genomes]
rs6470317	0.81[CHB][hapmap];0.90[AMR][1000 genomes]
rs6470318	0.82[AMR][1000 genomes]
rs6470325	0.87[AMR][1000 genomes]
rs7011950	0.82[CHB][hapmap];0.94[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7016723	0.96[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7387254	0.81[CHB][hapmap];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	0.82[CHB][hapmap];0.92[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7820706	0.82[CHB][hapmap];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	0.90[CHB][hapmap];1.00[JPT][hapmap];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:21 , 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	chr8:125878000-125881000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr8:125878000-125881000	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr8:125879400-125881800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr8:125879400-125884600	Weak transcription	HSMMtube	muscle
7	chr8:125879600-125884400	Weak transcription	HSMM	muscle
8	chr8:125879600-125884400	Weak transcription	Osteobl	bone
9	chr8:125879600-125884600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr8:125879800-125881800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr8:125879800-125884400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr8:125879800-125884400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr8:125879800-125884400	Weak transcription	NHDF-Ad	bronchial
14	chr8:125879800-125884400	Weak transcription	NHEK	skin
15	chr8:125879800-125884600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr8:125879800-125884600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr8:125879800-125884600	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr8:125880000-125884400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr8:125880600-125884600	Weak transcription	NHLF	lung
20	chr8:125880800-125884400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr8:125880800-125885000	Weak transcription	Left Ventricle	heart

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