Variant report

Variant	rs6425594
Chromosome Location	chr1:179768464-179768465
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1148822	0.82[EUR][1000 genomes]
rs1148823	0.81[CEU][hapmap]
rs1148824	0.96[CEU][hapmap];0.93[GIH][hapmap];0.83[TSI][hapmap];0.87[EUR][1000 genomes]
rs1148825	0.80[CEU][hapmap];0.93[GIH][hapmap]
rs1281420	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1281421	0.84[CEU][hapmap];0.95[GIH][hapmap];0.87[TSI][hapmap];0.81[EUR][1000 genomes]
rs2236589	0.84[GIH][hapmap]
rs2647225	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2647226	0.84[GIH][hapmap];0.81[MEX][hapmap]
rs2777920	0.88[CEU][hapmap];0.81[GIH][hapmap]
rs2794586	0.81[ASW][hapmap];0.81[CEU][hapmap];0.97[GIH][hapmap];0.85[MEX][hapmap];0.84[MKK][hapmap];0.95[TSI][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3845386	0.96[CEU][hapmap];0.97[GIH][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4320747	0.96[CEU][hapmap];0.86[GIH][hapmap];0.88[TSI][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6684425	0.88[CEU][hapmap];0.80[EUR][1000 genomes]
rs6690639	0.96[CEU][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6695329	1.00[CEU][hapmap];0.82[YRI][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6701652	0.87[CEU][hapmap];0.92[YRI][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7552673	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs904272	0.88[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009961	chr1:179714247-179790110	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1011407	chr1:179733193-179799430	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv520418	chr1:179761601-179794602	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv519307	chr1:179766086-179795505	Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:179767600-179768600	Enhancers	Right Atrium	heart
2	chr1:179767600-179768600	Enhancers	GM12878-XiMat	blood
3	chr1:179767800-179768600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr1:179768000-179768600	Enhancers	Psoas Muscle	Psoas
5	chr1:179768000-179769000	Enhancers	Fetal Intestine Small	intestine
6	chr1:179768200-179768600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:179768200-179768600	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr1:179768400-179768600	Enhancers	Pancreas	Pancrea

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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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