Variant report

Variant	rs1246917
Chromosome Location	chr4:166555193-166555194
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:15)

rs_ID	r²[population]
rs1246907	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1246919	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1350614	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1380348	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1459499	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1841211	0.82[EUR][1000 genomes]
rs2611206	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2611208	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2611210	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2714808	0.94[EUR][1000 genomes]
rs2714832	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3843405	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs922098	0.93[EUR][1000 genomes]
rs963718	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs971710	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]

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	nsv830141	chr4:166502908-166689626	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1028337	chr4:166544699-166659468	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv537338	chr4:166544699-166659468	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv3448287	chr4:166553452-166556850	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:166545200-166555200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:166553400-166555800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr4:166553400-166556400	Weak transcription	Fetal Thymus	thymus
4	chr4:166553400-166556600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr4:166553600-166555600	Weak transcription	NHEK	skin
6	chr4:166553800-166556600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr4:166554000-166555600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:166554000-166556400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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