Variant report

Variant	rs1416601
Chromosome Location	chr1:193622690-193622691
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12025400	0.86[EUR][1000 genomes]
rs12064935	0.86[EUR][1000 genomes]
rs12073207	0.82[EUR][1000 genomes]
rs12082580	0.83[EUR][1000 genomes]
rs12084728	0.86[EUR][1000 genomes]
rs12086172	0.86[EUR][1000 genomes]
rs1339307	0.86[EUR][1000 genomes]
rs1578120	0.86[EUR][1000 genomes]
rs16835629	0.86[EUR][1000 genomes]
rs16835631	0.81[EUR][1000 genomes]
rs17304644	0.92[CEU][hapmap];1.00[YRI][hapmap]
rs72728904	0.86[EUR][1000 genomes]
rs72744046	0.86[EUR][1000 genomes]
rs72744048	0.86[EUR][1000 genomes]
rs72744061	0.83[EUR][1000 genomes]
rs72744063	0.83[EUR][1000 genomes]
rs72744067	0.86[EUR][1000 genomes]
rs72744069	0.85[EUR][1000 genomes]
rs7524732	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9628684	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008266	chr1:193550185-194481053	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv3372415	chr1:193612172-193988265	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193622000-193627400	Weak transcription	Fetal Brain Male	brain

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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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