Variant report

Variant	rs4449426
Chromosome Location	chr4:124770843-124770844
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10002195	0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10029896	0.83[ASN][1000 genomes]
rs11722864	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11732495	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1433225	0.84[ASN][1000 genomes]
rs72672806	0.83[EUR][1000 genomes];0.85[ASN][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	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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4449426	TNIP3	cis	parietal	SCAN
rs4449426	SLC25A31	cis	parietal	SCAN
rs4449426	SPATA5	cis	cerebellum	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:124763000-124771000	Weak transcription	Aorta	Aorta
2	chr4:124766200-124772600	Weak transcription	Fetal Intestine Small	intestine
3	chr4:124769200-124771400	Enhancers	Fetal Lung	lung
4	chr4:124769200-124778000	Weak transcription	Right Atrium	heart
5	chr4:124769400-124775800	Weak transcription	Ovary	ovary
6	chr4:124769800-124771200	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr4:124770000-124771400	Enhancers	HepG2	liver
8	chr4:124770400-124771000	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr4:124770400-124771200	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr4:124770400-124772200	Enhancers	Fetal Stomach	stomach
11	chr4:124770400-124776000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr4:124770400-124776000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr4:124770600-124771200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr4:124770600-124771400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr4:124770600-124771400	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr4:124770800-124771000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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Input of quick search could be:

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

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