Variant report

Variant	rs522027
Chromosome Location	chr4:144220578-144220579
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11941277	1.00[ASN][1000 genomes]
rs11941986	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11942185	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12331265	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13105156	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs13133540	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs13146448	0.88[CEU][hapmap];1.00[CHB][hapmap]
rs182467	1.00[ASN][1000 genomes]
rs188521	1.00[ASN][1000 genomes]
rs214426	1.00[ASN][1000 genomes]
rs2323079	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28397211	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs300950	1.00[CHB][hapmap]
rs300954	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs300955	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs34420992	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs535824	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs536660	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv1033902	chr4:144114413-144285772	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 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	chr4:144216000-144222800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr4:144216000-144223000	Weak transcription	Fetal Muscle Trunk	muscle
3	chr4:144216800-144223400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr4:144216800-144223400	Weak transcription	Fetal Lung	lung
5	chr4:144216800-144223600	Weak transcription	Fetal Stomach	stomach
6	chr4:144216800-144223800	Weak transcription	Fetal Muscle Leg	muscle
7	chr4:144219200-144222000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:144219400-144223800	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr4:144220000-144221000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr4:144220200-144221000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr4:144220200-144221200	Enhancers	NHEK	skin
12	chr4:144220400-144220800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr4:144220400-144221000	Enhancers	HMEC	breast

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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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