Variant report

Variant	rs28448293
Chromosome Location	chr3:60560162-60560163
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10510849	0.88[ASN][1000 genomes]
rs11130775	0.88[ASN][1000 genomes]
rs11130776	0.87[ASN][1000 genomes]
rs12054041	0.88[ASN][1000 genomes]
rs12494672	0.90[ASN][1000 genomes]
rs12495226	0.86[ASN][1000 genomes]
rs72885798	0.90[ASN][1000 genomes]
rs73834244	0.90[ASN][1000 genomes]
rs9835422	0.82[AMR][1000 genomes];0.83[ASN][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	nsv529602	chr3:60088353-60830769	Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv998815	chr3:60495872-60830769	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv999828	chr3:60537384-60785274	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr3:60555400-60573600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr3:60558400-60560200	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr3:60558600-60560200	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr3:60558600-60560200	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr3:60558800-60560800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr3:60558800-60562200	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr3:60559000-60560200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr3:60559000-60561600	Weak transcription	Pancreas	Pancrea
9	chr3:60559200-60561600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr3:60559400-60560400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr3:60559400-60560400	Enhancers	Placenta Amnion	Placenta Amnion
12	chr3:60559400-60561600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr3:60559600-60560200	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr3:60559600-60565200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr3:60559800-60561800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr3:60559800-60564600	Weak transcription	NHEK	skin
17	chr3:60559800-60564800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr3:60560000-60560200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr3:60560000-60560600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr3:60560000-60564600	Weak transcription	HMEC	breast
21	chr3:60560000-60564800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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