Variant report

Variant	rs13117812
Chromosome Location	chr4:124628029-124628030
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12054499	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12500929	0.84[EUR][1000 genomes]
rs13117506	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2042627	0.82[EUR][1000 genomes]
rs2042628	0.84[EUR][1000 genomes]
rs7657498	0.84[EUR][1000 genomes]
rs890181	0.83[EUR][1000 genomes]
rs9307531	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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	nsv830047	chr4:124504051-124699142	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:124618400-124632000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr4:124621600-124631400	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr4:124622000-124630600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:124622000-124636200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr4:124622000-124637200	Weak transcription	Psoas Muscle	Psoas
6	chr4:124623200-124628200	Weak transcription	Osteobl	bone
7	chr4:124624400-124629600	Weak transcription	Aorta	Aorta
8	chr4:124624800-124629400	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr4:124624800-124629400	Weak transcription	Fetal Muscle Leg	muscle
10	chr4:124627200-124629000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr4:124627200-124629600	Weak transcription	Fetal Stomach	stomach
12	chr4:124627600-124628600	Enhancers	NHLF	lung
13	chr4:124627800-124628600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr4:124627800-124628800	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr4:124627800-124629000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr4:124627800-124629000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr4:124627800-124629200	Enhancers	Fetal Lung	lung
18	chr4:124628000-124628400	Enhancers	NHDF-Ad	bronchial

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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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