Variant report

Variant	rs10494454
Chromosome Location	chr1:166117910-166117911
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs16856607	1.00[AMR][1000 genomes]
rs16856617	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16856657	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16856676	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16856694	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58359448	1.00[AMR][1000 genomes]
rs6677013	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7531693	1.00[AMR][1000 genomes]
rs7531868	1.00[AMR][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	nsv916491	chr1:166000783-166948513	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	esv3332610	chr1:166111288-166282689	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:166106200-166119000	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr1:166106600-166123200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr1:166109200-166119000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:166113400-166122600	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr1:166114800-166120800	Weak transcription	Psoas Muscle	Psoas
6	chr1:166115000-166122600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr1:166117400-166124400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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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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