Variant report

Variant	rs74082142
Chromosome Location	chr1:67632728-67632729
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11465759	1.00[EUR][1000 genomes]
rs11465771	1.00[EUR][1000 genomes]
rs11465785	1.00[EUR][1000 genomes]
rs57511334	1.00[EUR][1000 genomes]
rs72927017	1.00[EUR][1000 genomes]
rs72927024	1.00[EUR][1000 genomes]
rs72927042	1.00[EUR][1000 genomes]
rs74080125	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74080126	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74082141	0.87[AFR][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	nsv461751	chr1:67479598-67689036	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv546445	chr1:67479598-67689036	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv461762	chr1:67551209-67648460	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv546446	chr1:67551209-67648460	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:67628600-67635200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr1:67628800-67635000	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr1:67628800-67635600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr1:67631400-67633400	Enhancers	Fetal Heart	heart
5	chr1:67631400-67637800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr1:67632200-67632800	Active TSS	Primary T cells fromperipheralblood	blood
7	chr1:67632400-67634600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
8	chr1:67632600-67632800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
9	chr1:67632600-67633200	Enhancers	GM12878-XiMat	blood

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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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