Variant report

Variant	rs812214
Chromosome Location	chr1:93861060-93861061
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:93809746..93811502-chr1:93859188..93861882,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000117505	Chromatin interaction
ENSG00000223745	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10443193	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1081522	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10874777	0.81[ASN][1000 genomes]
rs10874783	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10874784	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11164897	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11164908	0.90[AFR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11164916	0.81[ASN][1000 genomes]
rs11164921	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12031709	0.88[AFR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12405487	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12406245	0.81[ASN][1000 genomes]
rs12563120	0.90[AFR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12566752	0.90[AFR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1365297	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1593512	0.81[ASN][1000 genomes]
rs2114271	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2114272	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2162276	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2391251	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35628716	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35910103	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35915989	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4847241	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4847242	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4847426	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61266405	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61799516	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6541349	0.81[EUR][1000 genomes]
rs6676902	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6684908	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6691545	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs698927	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7417952	0.81[ASN][1000 genomes]
rs771454	0.83[ASN][1000 genomes]
rs771458	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs771461	0.82[ASN][1000 genomes]
rs771462	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs771465	0.83[ASN][1000 genomes]
rs771470	0.86[ASN][1000 genomes]
rs771476	0.85[ASN][1000 genomes]
rs771478	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs771479	0.86[ASN][1000 genomes]
rs771481	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs771482	0.86[ASN][1000 genomes]
rs810027	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv871640	chr1:93807122-93953469	Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	esv3435847	chr1:93860911-93861169	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93853200-93866000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:93859800-93861400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr1:93860000-93861200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:93860200-93862000	Enhancers	HepG2	liver
5	chr1:93860600-93861800	Enhancers	Fetal Intestine Large	intestine
6	chr1:93860800-93861200	Enhancers	NHEK	skin
7	chr1:93861000-93862200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr1:93861000-93865400	Weak transcription	HMEC	breast

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