Variant report

Variant	rs62324486
Chromosome Location	chr4:125403016-125403017
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs2131321	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2390689	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4505832	0.81[EUR][1000 genomes]
rs55809588	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56358767	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62320694	1.00[AFR][1000 genomes]
rs62323548	1.00[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs62323550	0.86[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs62323552	0.86[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs62323553	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62323554	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62324484	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62324485	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62324487	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868977	chr4:124841128-125550637	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv879880	chr4:125174817-125494547	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv2760890	chr4:125273456-125466931	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv879881	chr4:125280852-125448288	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:125389800-125404200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:125399200-125404000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr4:125399600-125404400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr4:125399800-125403800	Weak transcription	Fetal Heart	heart
5	chr4:125401000-125404000	Weak transcription	Fetal Lung	lung
6	chr4:125401000-125404000	Weak transcription	HUVEC	blood vessel
7	chr4:125402200-125403200	Enhancers	NHEK	skin
8	chr4:125402800-125403200	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr4:125402800-125404200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr4:125403000-125403200	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr4:125403000-125404000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr4:125403000-125404000	Weak transcription	NHDF-Ad	bronchial
13	chr4:125403000-125406000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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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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