Variant report

Variant	rs2430319
Chromosome Location	chr4:15394317-15394318
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10516286	0.81[JPT][hapmap]
rs4408956	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4698376	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3448986	chr4:14928802-15805558	Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:15378600-15401200	Weak transcription	Primary B cells from cord blood	blood
2	chr4:15384400-15402000	Weak transcription	Fetal Lung	lung
3	chr4:15388000-15396600	Weak transcription	Ovary	ovary
4	chr4:15388200-15400000	Weak transcription	Colon Smooth Muscle	Colon
5	chr4:15388400-15401800	Weak transcription	Fetal Stomach	stomach
6	chr4:15393000-15395000	Weak transcription	Aorta	Aorta
7	chr4:15393600-15394400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr4:15394000-15394400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr4:15394000-15394400	Enhancers	HSMMtube	muscle
10	chr4:15394200-15397600	Weak transcription	Stomach Smooth Muscle	stomach
11	chr4:15394200-15397800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr4:15394200-15400000	Weak transcription	Lung	lung

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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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