Variant report

Variant	rs28454611
Chromosome Location	chr5:167148594-167148595
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10035753	1.00[AMR][1000 genomes]
rs10064202	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10074209	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932627	chr5:166744408-167290959	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1032559	chr5:167070888-167210684	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1027805	chr5:167082800-167285008	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167140800-167150200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr5:167143400-167152800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:167143400-167156000	Weak transcription	NH-A	brain
4	chr5:167145200-167149000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr5:167145200-167149000	Weak transcription	NHEK	skin
6	chr5:167145200-167149200	Weak transcription	HMEC	breast
7	chr5:167145400-167152400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr5:167145600-167149000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr5:167146800-167150800	Enhancers	Muscle Satellite Cultured Cells	--
10	chr5:167147200-167148600	Enhancers	NHDF-Ad	bronchial
11	chr5:167147400-167148600	Enhancers	Brain Anterior Caudate	brain
12	chr5:167147600-167148800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr5:167147600-167150200	Weak transcription	HSMMtube	muscle
14	chr5:167147800-167148600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr5:167148000-167148800	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr5:167148000-167150000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr5:167148000-167150000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr5:167148000-167150000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr5:167148000-167152400	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr5:167148000-167152400	Weak transcription	Fetal Lung	lung
21	chr5:167148000-167152800	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr5:167148200-167150000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr5:167148200-167150200	Weak transcription	Osteobl	bone
24	chr5:167148200-167152400	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr5:167148400-167148600	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr5:167148400-167148600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr5:167148400-167148600	Genic enhancers	HSMM	muscle
28	chr5:167148400-167149800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr5:167148400-167150400	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr5:167148400-167150800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links