Variant report

Variant	rs72926013
Chromosome Location	chr4:129979216-129979217
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	chr4:129977804..129979705-chr4:129980328..129983022,2	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs56219732	1.00[AMR][1000 genomes]
rs56765848	1.00[AFR][1000 genomes]
rs58051833	1.00[AFR][1000 genomes]
rs59285303	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59715472	1.00[AFR][1000 genomes]
rs61702015	1.00[AFR][1000 genomes]
rs72922050	1.00[AFR][1000 genomes]
rs72922052	1.00[AFR][1000 genomes]
rs72922062	1.00[AFR][1000 genomes]
rs72922075	1.00[AFR][1000 genomes]
rs72922078	1.00[AFR][1000 genomes]
rs72922083	1.00[AFR][1000 genomes]
rs72922086	1.00[AFR][1000 genomes]
rs72922093	1.00[AFR][1000 genomes]
rs72922097	1.00[AFR][1000 genomes]
rs72922099	1.00[AFR][1000 genomes]
rs72922102	1.00[AFR][1000 genomes]
rs72922806	1.00[AMR][1000 genomes]
rs72924103	1.00[AFR][1000 genomes]
rs72924109	1.00[AFR][1000 genomes]
rs72924111	1.00[AFR][1000 genomes]
rs72924115	1.00[AFR][1000 genomes]
rs72924122	1.00[AFR][1000 genomes]
rs72924130	0.81[AFR][1000 genomes]
rs72924138	1.00[AFR][1000 genomes]
rs72924154	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72924157	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72924160	1.00[AFR][1000 genomes]
rs72924167	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72924180	1.00[AFR][1000 genomes]
rs72924185	1.00[AFR][1000 genomes]
rs72926010	1.00[AFR][1000 genomes]
rs72926011	1.00[AFR][1000 genomes]
rs72926017	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72926020	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72926029	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72926030	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72926036	1.00[AFR][1000 genomes]
rs72926056	1.00[AFR][1000 genomes]
rs72926071	1.00[AFR][1000 genomes]
rs72926072	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72926087	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72926090	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72927922	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72927928	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72927936	0.90[AFR][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	nsv869258	chr4:129191619-130138148	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	nsv534538	chr4:129799138-130431688	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv522694	chr4:129862073-129994690	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv879931	chr4:129939775-130178102	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129945600-129981800	Weak transcription	Thymus	Thymus
2	chr4:129977200-130000600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr4:129977400-129981600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr4:129977400-129981600	Weak transcription	Aorta	Aorta
5	chr4:129977400-129981600	Weak transcription	Gastric	stomach
6	chr4:129977400-129981800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr4:129977400-129981800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr4:129977400-129982000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr4:129977400-129982000	Weak transcription	Ovary	ovary
10	chr4:129977400-129982000	Weak transcription	Pancreas	Pancrea
11	chr4:129979200-129979600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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