Variant report

Variant	rs28572568
Chromosome Location	chr4:148430763-148430764
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10001478	1.00[AMR][1000 genomes]
rs10003944	1.00[AMR][1000 genomes]
rs10010949	1.00[AMR][1000 genomes]
rs10011035	1.00[AMR][1000 genomes]
rs10012917	1.00[AMR][1000 genomes]
rs10016209	1.00[AMR][1000 genomes]
rs10019230	1.00[AMR][1000 genomes]
rs10024734	1.00[AMR][1000 genomes]
rs10028666	1.00[AMR][1000 genomes]
rs10305849	1.00[AMR][1000 genomes]
rs10305881	1.00[AMR][1000 genomes]
rs10305883	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11939191	1.00[AMR][1000 genomes]
rs11943100	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11943383	1.00[AMR][1000 genomes]
rs13435440	1.00[AMR][1000 genomes]
rs1400557	1.00[AMR][1000 genomes]
rs16998721	1.00[AMR][1000 genomes]
rs28386186	1.00[AMR][1000 genomes]
rs28679567	1.00[AMR][1000 genomes]
rs28687346	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28808633	1.00[AMR][1000 genomes]
rs28889981	1.00[AMR][1000 genomes]
rs955558	1.00[AMR][1000 genomes]
rs9884495	1.00[AMR][1000 genomes]
rs9993718	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9993720	1.00[AMR][1000 genomes]
rs9997823	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	nsv830109	chr4:148295061-148468605	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv1028958	chr4:148377752-148793485	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS 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 miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv880241	chr4:148411178-148461073	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148414400-148447400	Weak transcription	Fetal Stomach	stomach
2	chr4:148416400-148434000	Weak transcription	Left Ventricle	heart
3	chr4:148417000-148433200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr4:148420000-148432200	Weak transcription	Osteobl	bone
5	chr4:148420000-148436000	Weak transcription	Fetal Muscle Leg	muscle
6	chr4:148420000-148438800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr4:148422200-148443000	Weak transcription	Fetal Intestine Small	intestine
8	chr4:148422600-148433600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr4:148428600-148434200	Weak transcription	Fetal Lung	lung
10	chr4:148430000-148432000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr4:148430200-148434000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr4:148430400-148430800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr4:148430400-148430800	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr4:148430400-148430800	Enhancers	Ovary	ovary
15	chr4:148430400-148430800	Enhancers	Right Atrium	heart
16	chr4:148430400-148431200	Enhancers	NH-A	brain
17	chr4:148430400-148431800	Enhancers	Fetal Heart	heart
18	chr4:148430600-148430800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr4:148430600-148430800	Enhancers	NHDF-Ad	bronchial
20	chr4:148430600-148432200	Enhancers	Muscle Satellite Cultured Cells	--
21	chr4:148430600-148439400	Weak transcription	Aorta	Aorta

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