Variant report

Variant	rs4889113
Chromosome Location	chr16:80194929-80194930
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	chr16:80194118..80196698-chr16:80201674..80203282,2	MCF-7	breast:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10514487	0.82[AMR][1000 genomes]
rs12102352	0.81[ASN][1000 genomes]
rs12102687	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12103210	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12598278	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs16952553	0.88[EUR][1000 genomes]
rs16952602	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16952610	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16952612	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16952615	0.91[EUR][1000 genomes]
rs17734628	0.88[EUR][1000 genomes]
rs17794680	0.85[EUR][1000 genomes]
rs17794789	0.88[EUR][1000 genomes]
rs17794813	0.88[EUR][1000 genomes]
rs17796486	0.91[EUR][1000 genomes]
rs1862698	0.81[ASN][1000 genomes]
rs1871208	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1904189	0.81[EUR][1000 genomes]
rs4889114	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4889117	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4889118	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61540470	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6564742	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6564743	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs7192068	0.88[EUR][1000 genomes]
rs73573845	0.91[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs74028037	0.87[EUR][1000 genomes]
rs74028038	0.87[EUR][1000 genomes]
rs74041375	0.91[EUR][1000 genomes]
rs7499082	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs8044077	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs8045802	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs8060581	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs9921356	0.85[ASN][1000 genomes]
rs9934115	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9941114	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];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	nsv833298	chr16:80122337-80314603	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1055982	chr16:80151604-80202923	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80186600-80197600	Weak transcription	HSMMtube	muscle
2	chr16:80192800-80197600	Weak transcription	Pancreas	Pancrea
3	chr16:80193200-80199600	Weak transcription	A549	lung
4	chr16:80193400-80197600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr16:80193400-80197800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr16:80193400-80197800	Weak transcription	Osteobl	bone
7	chr16:80193400-80199200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr16:80193600-80197400	Weak transcription	HSMM	muscle
9	chr16:80193600-80197600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr16:80193600-80197600	Weak transcription	NH-A	brain
11	chr16:80193600-80197800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr16:80193600-80201400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr16:80193600-80207600	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr16:80193800-80201400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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