Variant report

Variant	rs28574816
Chromosome Location	chr4:152961050-152961051
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10033529	0.95[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs10033840	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10050281	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13435686	0.86[ASN][1000 genomes]
rs17028449	1.00[ASN][1000 genomes]
rs28535575	0.93[EUR][1000 genomes]
rs28868301	1.00[ASN][1000 genomes]
rs6858417	0.96[ASN][1000 genomes]
rs72968646	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72968650	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72968655	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][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	nsv432644	chr4:152635395-153023402	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv880341	chr4:152861685-153110256	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv931416	chr4:152877808-153440553	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv461679	chr4:152935555-152992741	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv595734	chr4:152935555-152992741	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:152958000-152961400	Enhancers	Skeletal Muscle Male	skeletal muscle
2	chr4:152959000-152961200	Enhancers	Stomach Smooth Muscle	stomach
3	chr4:152959000-152961600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr4:152959200-152961400	Enhancers	NHLF	lung
5	chr4:152959600-152965600	Weak transcription	Hela-S3	cervix
6	chr4:152960200-152961400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr4:152960200-152961800	Enhancers	Fetal Heart	heart
8	chr4:152960600-152961400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr4:152960600-152961400	Enhancers	Aorta	Aorta
10	chr4:152960600-152961600	Enhancers	Left Ventricle	heart
11	chr4:152960600-152963200	Enhancers	Fetal Thymus	thymus
12	chr4:152960600-152966800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr4:152960800-152965200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr4:152961000-152963200	Enhancers	Thymus	Thymus
15	chr4:152961000-152966600	Weak transcription	Skeletal Muscle Female	skeletal muscle

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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