Variant report

Variant	rs7463566
Chromosome Location	chr8:125861978-125861979
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125861351..125863814-chr8:125873373..125876664,3	K562	blood:
2	chr8:125861710..125864506-chr8:125866256..125868160,3	K562	blood:
3	chr16:68268392..68270651-chr8:125859667..125862463,2	MCF-7	breast:
4	chr8:125736316..125742243-chr8:125861977..125870763,24	MCF-7	breast:
5	chr8:125624289..125626710-chr8:125861168..125862907,2	MCF-7	breast:
6	chr8:125861710..125864506-chr8:125866256..125867953,3	K562	blood:
7	chr8:125861812..125863734-chr8:126007944..126010716,2	K562	blood:

Variant related genes	Relation type
ENSG00000170873	Chromatin interaction
ENSG00000103067	Chromatin interaction
ENSG00000253513	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10093649	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10956219	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10956220	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11774426	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11990757	0.91[EUR][1000 genomes]
rs11994576	0.99[EUR][1000 genomes]
rs11994907	0.99[EUR][1000 genomes]
rs12542397	0.98[EUR][1000 genomes]
rs12547431	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12549299	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28446872	0.91[EUR][1000 genomes]
rs28460087	0.90[EUR][1000 genomes]
rs28597931	0.91[EUR][1000 genomes]
rs28731447	0.83[EUR][1000 genomes]
rs4870928	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871558	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871560	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6470288	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6470289	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6470290	0.91[EUR][1000 genomes]
rs6470294	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6988410	0.99[EUR][1000 genomes]
rs6992468	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7015626	0.98[EUR][1000 genomes]
rs7460031	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7835994	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125858000-125862200	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr8:125858000-125862200	Enhancers	HMEC	breast
3	chr8:125859200-125862200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:125859200-125862200	Enhancers	Right Atrium	heart
5	chr8:125859400-125862200	Enhancers	Primary hematopoietic stem cells	blood
6	chr8:125859600-125862000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr8:125860400-125862000	Enhancers	Fetal Heart	heart
8	chr8:125860400-125866000	Weak transcription	Esophagus	oesophagus
9	chr8:125861000-125863200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr8:125861000-125865400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr8:125861000-125865600	Weak transcription	Right Ventricle	heart
12	chr8:125861200-125862000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr8:125861200-125862000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr8:125861400-125862200	Enhancers	Left Ventricle	heart
15	chr8:125861400-125862200	Enhancers	K562	blood
16	chr8:125861400-125863600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr8:125861400-125863600	Weak transcription	HepG2	liver
18	chr8:125861400-125866000	Weak transcription	Pancreas	Pancrea
19	chr8:125861400-125869000	Weak transcription	Ovary	ovary
20	chr8:125861800-125862200	Enhancers	NHEK	skin
21	chr8:125861800-125863000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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