Variant report

Variant	rs58133026
Chromosome Location	chr1:48287516-48287517
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs35993428	1.00[AMR][1000 genomes]
rs60703665	1.00[AMR][1000 genomes]
rs61589643	1.00[AMR][1000 genomes]
rs6668966	1.00[AMR][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	nsv829760	chr1:48111126-48308188	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv871257	chr1:48111699-48334490	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1001126	chr1:48164622-48320862	Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv998583	chr1:48232131-48316877	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:48267200-48300800	Weak transcription	Liver	Liver
2	chr1:48276400-48294600	Weak transcription	Gastric	stomach
3	chr1:48276800-48289000	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr1:48279200-48288600	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr1:48281000-48292800	Weak transcription	Fetal Kidney	kidney
6	chr1:48281000-48293200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr1:48281200-48288800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:48282000-48289800	Weak transcription	Lung	lung
9	chr1:48284000-48290200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr1:48284400-48289600	Weak transcription	Colonic Mucosa	Colon
11	chr1:48285000-48288600	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr1:48285200-48292800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr1:48285400-48287800	Weak transcription	Fetal Muscle Trunk	muscle
14	chr1:48285400-48288800	Weak transcription	Fetal Lung	lung
15	chr1:48285600-48288600	Weak transcription	Right Atrium	heart
16	chr1:48286000-48288600	Weak transcription	Fetal Intestine Small	intestine
17	chr1:48286000-48288800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr1:48286000-48291800	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr1:48286200-48290000	Weak transcription	Fetal Intestine Large	intestine
20	chr1:48286800-48288000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr1:48286800-48288000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr1:48286800-48292000	Enhancers	Fetal Muscle Leg	muscle
23	chr1:48287200-48287800	Weak transcription	HepG2	liver
24	chr1:48287400-48287800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr1:48287400-48288200	Enhancers	NHEK	skin
26	chr1:48287400-48293600	Weak transcription	Right Ventricle	heart

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