Variant report

Variant	rs28478293
Chromosome Location	chr5:147239833-147239834
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10039761	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10040102	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10043586	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10078349	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13353996	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13355958	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13360178	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13360252	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28401755	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28437385	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28479902	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28570984	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28588162	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28609427	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28613022	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28684497	1.00[EUR][1000 genomes]
rs28707309	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59404183	1.00[EUR][1000 genomes]
rs60735175	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021356	chr5:147103627-147310531	Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1033907	chr5:147109014-147309076	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv537916	chr5:147109014-147309076	Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv3334831	chr5:147165950-147339765	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv933308	chr5:147173804-147269006	Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:147234200-147262400	Weak transcription	Right Atrium	heart
2	chr5:147237000-147243000	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr5:147238400-147240000	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr5:147238400-147240400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr5:147238600-147248800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr5:147239000-147240000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr5:147239400-147240400	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr5:147239600-147240200	Enhancers	Rectal Mucosa Donor 29	rectum
9	chr5:147239600-147240600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr5:147239600-147240800	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr5:147239600-147241800	Enhancers	H9 Cell Line	embryonic stem cell
12	chr5:147239800-147240000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
13	chr5:147239800-147240200	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr5:147239800-147240400	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr5:147239800-147240400	Enhancers	Liver	Liver
16	chr5:147239800-147240400	Enhancers	Small Intestine	intestine
17	chr5:147239800-147241000	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr5:147239800-147241800	Enhancers	H1 Cell Line	embryonic stem cell
19	chr5:147239800-147245600	Genic enhancers	HUES6 Cell Line	embryonic stem cell
20	chr5:147239800-147248600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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