Variant report

Variant	rs17028462
Chromosome Location	chr4:152959821-152959822
allele	C/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]
rs1385784	1.00[AMR][1000 genomes]
rs55943229	1.00[AMR][1000 genomes]
rs58239760	1.00[AMR][1000 genomes]
rs61484042	1.00[AMR][1000 genomes]
rs72953008	1.00[AMR][1000 genomes]
rs72953014	1.00[AMR][1000 genomes]
rs72953021	1.00[AMR][1000 genomes]
rs72953090	1.00[AMR][1000 genomes]
rs72953091	1.00[AMR][1000 genomes]
rs72953095	1.00[AMR][1000 genomes]
rs73865606	1.00[AMR][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	chr4:152955200-152960600	Weak transcription	Left Ventricle	heart
2	chr4:152957200-152960400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr4:152958000-152961400	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chr4:152958600-152961000	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr4:152958800-152960000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr4:152958800-152960200	Flanking Active TSS	Fetal Heart	heart
7	chr4:152958800-152960400	Enhancers	HSMMtube	muscle
8	chr4:152959000-152960400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr4:152959000-152961200	Enhancers	Stomach Smooth Muscle	stomach
10	chr4:152959000-152961600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr4:152959200-152961400	Enhancers	NHLF	lung
12	chr4:152959400-152960000	Weak transcription	NH-A	brain
13	chr4:152959600-152960200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr4:152959600-152960600	Weak transcription	Aorta	Aorta
15	chr4:152959600-152965600	Weak transcription	Hela-S3	cervix

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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