Variant report

Variant	rs694625
Chromosome Location	chr6:147500484-147500485
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1031012	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1031013	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1221645	0.81[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1660690	0.90[CHB][hapmap];0.86[CHD][hapmap];0.81[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2582928	0.81[EUR][1000 genomes]
rs2786181	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2818866	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2818867	0.89[CEU][hapmap];0.87[TSI][hapmap];0.92[EUR][1000 genomes]
rs559038	0.91[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs594981	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs631931	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs649544	0.81[CEU][hapmap];0.85[TSI][hapmap];0.90[EUR][1000 genomes]
rs652831	0.91[CHB][hapmap];0.84[CHD][hapmap];0.91[JPT][hapmap];0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs693573	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019245	chr6:147350834-147609776	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv538467	chr6:147350834-147609776	Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv886752	chr6:147443480-147729477	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:147492000-147511400	Weak transcription	Aorta	Aorta
2	chr6:147494800-147500600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr6:147499000-147501200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr6:147500200-147500600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr6:147500200-147501200	Enhancers	K562	blood
6	chr6:147500400-147500600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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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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