Variant report

Variant	rs6687538
Chromosome Location	chr1:216206138-216206139
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10495011	1.00[JPT][hapmap]
rs12144255	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1347627	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1436772	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs17025589	1.00[JPT][hapmap]
rs17025676	1.00[JPT][hapmap]
rs17025679	1.00[JPT][hapmap]
rs17025680	1.00[JPT][hapmap]
rs17025681	1.00[JPT][hapmap]
rs17025684	1.00[JPT][hapmap]
rs17025685	1.00[JPT][hapmap]
rs17025690	1.00[JPT][hapmap]
rs17025699	1.00[JPT][hapmap]
rs17025701	1.00[JPT][hapmap]
rs17025702	1.00[JPT][hapmap]
rs17025758	1.00[JPT][hapmap]
rs17025764	1.00[JPT][hapmap]
rs17025797	1.00[JPT][hapmap]
rs17025799	1.00[JPT][hapmap]
rs17025802	1.00[JPT][hapmap]
rs17042187	1.00[JPT][hapmap]
rs1821761	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2813727	0.93[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.83[TSI][hapmap]
rs4481823	1.00[JPT][hapmap]
rs4481824	1.00[JPT][hapmap]
rs4537521	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.83[TSI][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs566191	1.00[JPT][hapmap]
rs626192	0.93[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.83[TSI][hapmap]
rs646378	0.93[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.83[TSI][hapmap]
rs6540922	1.00[JPT][hapmap]
rs6676313	0.83[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6692241	0.88[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.88[MKK][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs7528148	1.00[JPT][hapmap]
rs7543477	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006504	chr1:215890460-216642124	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv535288	chr1:215890460-216642124	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv428599	chr1:216086224-216267211	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv873172	chr1:216144827-216281673	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv873174	chr1:216151789-216211989	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv873175	chr1:216188698-216219781	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	n/a
7	nsv549195	chr1:216198015-216215518	Enhancers Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:216206000-216206600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:216206000-216207200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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