Variant report

Variant	rs58530613
Chromosome Location	chr4:124727524-124727525
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10518305	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10518306	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1368509	0.86[ASN][1000 genomes]
rs17007484	0.88[ASN][1000 genomes]
rs17007499	0.88[ASN][1000 genomes]
rs17007509	0.88[ASN][1000 genomes]
rs17007553	0.86[ASN][1000 genomes]
rs17425479	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs17425951	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs17491837	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs17492080	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4340803	0.88[ASN][1000 genomes]
rs4833291	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4833292	0.88[ASN][1000 genomes]
rs58148580	0.88[ASN][1000 genomes]
rs58208464	0.88[ASN][1000 genomes]
rs58498049	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6821590	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7692299	0.88[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	esv34581	chr4:124271321-125247395	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv1001751	chr4:124693346-124733305	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
3	esv2754745	chr4:124698055-124770865	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:124723800-124732400	Weak transcription	Adipose Nuclei	Adipose
2	chr4:124723800-124733000	Weak transcription	Psoas Muscle	Psoas
3	chr4:124724000-124733000	Weak transcription	Left Ventricle	heart
4	chr4:124724200-124732600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr4:124724200-124736000	Weak transcription	Aorta	Aorta
6	chr4:124725800-124731200	Weak transcription	Fetal Intestine Small	intestine
7	chr4:124725800-124732600	Weak transcription	Stomach Mucosa	stomach
8	chr4:124726000-124732400	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr4:124726800-124727600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr4:124726800-124727600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr4:124727000-124727600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr4:124727200-124727600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr4:124727200-124727600	Enhancers	HepG2	liver
14	chr4:124727200-124727600	Enhancers	NHDF-Ad	bronchial
15	chr4:124727200-124728200	Enhancers	Fetal Intestine Large	intestine

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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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