Variant report

Variant	rs709318
Chromosome Location	chr3:53609821-53609822
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs3774450	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3774454	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3774527	1.00[ASW][hapmap]
rs807187	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs807192	1.00[ASW][hapmap];1.00[CEU][hapmap];0.92[GIH][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][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	nsv1003621	chr3:53448934-54425322	Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:53601000-53611200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:53601000-53612200	Weak transcription	Right Atrium	heart
3	chr3:53604800-53614400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr3:53604800-53614600	Strong transcription	Fetal Intestine Small	intestine
5	chr3:53605600-53611200	Weak transcription	A549	lung
6	chr3:53605600-53619600	Weak transcription	Spleen	Spleen
7	chr3:53605800-53611200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr3:53605800-53612000	Weak transcription	Fetal Lung	lung
9	chr3:53605800-53645200	Weak transcription	Pancreas	Pancrea
10	chr3:53607000-53615000	Weak transcription	Brain Substantia Nigra	brain
11	chr3:53607600-53619800	Weak transcription	Lung	lung
12	chr3:53608000-53614200	Strong transcription	Fetal Intestine Large	intestine
13	chr3:53609400-53610000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr3:53609400-53619400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr3:53609800-53611600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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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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