Variant report

Variant	rs592349
Chromosome Location	chr4:144220383-144220384
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:144218613..144220541-chr4:144225277..144227012,2	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10012713	1.00[CEU][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10028909	0.87[ASN][1000 genomes]
rs10033104	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10434185	0.82[CEU][hapmap]
rs11100779	0.82[CEU][hapmap]
rs11947952	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12501994	0.82[CHD][hapmap]
rs12643013	0.86[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs13114280	0.83[EUR][1000 genomes]
rs13118846	0.93[ASN][1000 genomes]
rs13118943	0.83[EUR][1000 genomes]
rs13129434	0.87[ASN][1000 genomes]
rs13136521	0.86[CHB][hapmap]
rs13137362	0.87[ASN][1000 genomes]
rs13137565	0.82[CEU][hapmap]
rs1440412	0.84[AMR][1000 genomes]
rs1532981	0.93[ASN][1000 genomes]
rs2119269	0.83[EUR][1000 genomes]
rs300894	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs300899	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs300901	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs300902	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs300903	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs300913	0.95[CEU][hapmap];0.87[GIH][hapmap];0.87[TSI][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs300914	0.95[CEU][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs300915	0.95[CEU][hapmap];0.87[GIH][hapmap];0.87[TSI][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs300917	0.95[CEU][hapmap];0.87[GIH][hapmap];0.87[TSI][hapmap];0.88[EUR][1000 genomes]
rs300921	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs300924	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs300925	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs300927	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs300929	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs300938	0.81[EUR][1000 genomes]
rs300940	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs300941	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs300943	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs300946	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs300947	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs300949	0.87[EUR][1000 genomes]
rs300951	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs300953	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4285045	0.82[CEU][hapmap]
rs4690783	0.83[EUR][1000 genomes]
rs476417	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs624170	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6537152	0.87[ASN][1000 genomes]
rs6537153	0.92[ASN][1000 genomes]
rs666542	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6820340	0.81[CEU][hapmap]
rs6823434	0.87[ASN][1000 genomes]
rs6840603	0.95[ASN][1000 genomes]
rs7435424	0.81[CEU][hapmap]
rs7436840	0.83[EUR][1000 genomes]
rs763918	0.83[EUR][1000 genomes]
rs7655782	0.93[ASN][1000 genomes]
rs7690761	0.93[ASN][1000 genomes]
rs7692813	0.82[CEU][hapmap]
rs9996072	0.82[CEU][hapmap]
rs9998017	0.82[CEU][hapmap]

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	chr4:144216600-144220400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr4:144216800-144223400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr4:144216800-144223400	Weak transcription	Fetal Lung	lung
6	chr4:144216800-144223600	Weak transcription	Fetal Stomach	stomach
7	chr4:144216800-144223800	Weak transcription	Fetal Muscle Leg	muscle
8	chr4:144219000-144220400	Weak transcription	HMEC	breast
9	chr4:144219200-144222000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr4:144219400-144223800	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr4:144220000-144221000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr4:144220200-144221000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr4:144220200-144221200	Enhancers	NHEK	skin

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