Variant report

Variant	rs60301069
Chromosome Location	chr13:52927324-52927325
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	chr13:52921786..52923315-chr13:52926251..52928561,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs55896522	1.00[AFR][1000 genomes]
rs56263093	1.00[AFR][1000 genomes]
rs61957966	0.83[AFR][1000 genomes]
rs74085711	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74085729	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74085738	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74085755	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74085758	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74085786	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74087056	1.00[AFR][1000 genomes]
rs74087069	0.81[AFR][1000 genomes]
rs74087090	0.81[AFR][1000 genomes]
rs74089427	1.00[AMR][1000 genomes]
rs7999902	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9591455	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv934070	chr13:52362588-53174923	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
2	nsv1040931	chr13:52564792-53350914	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv541773	chr13:52564792-53350914	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv428288	chr13:52728370-53068132	Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv900084	chr13:52835231-53119704	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	nsv977385	chr13:52918841-52936623	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 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	chr13:52923400-52929800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr13:52923600-52930200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr13:52924000-52930000	Weak transcription	Hela-S3	cervix
4	chr13:52926400-52929000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr13:52926800-52928400	Enhancers	Osteobl	bone
6	chr13:52926800-52928600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr13:52927000-52927600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr13:52927000-52927600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr13:52927000-52927800	Enhancers	NHDF-Ad	bronchial
10	chr13:52927000-52928000	Enhancers	HMEC	breast
11	chr13:52927000-52928000	Enhancers	NHEK	skin
12	chr13:52927000-52928200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr13:52927000-52928200	Enhancers	HSMMtube	muscle
14	chr13:52927000-52928400	Enhancers	Muscle Satellite Cultured Cells	--
15	chr13:52927000-52928400	Enhancers	NHLF	lung
16	chr13:52927200-52927400	Enhancers	NH-A	brain
17	chr13:52927200-52927600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr13:52927200-52927800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr13:52927200-52928000	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr13:52927200-52928000	Enhancers	HSMM	muscle
21	chr13:52927200-52928400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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