Variant report

Variant	rs17129680
Chromosome Location	chr1:67632582-67632583
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]
rs12562213	0.88[ASN][1000 genomes]
rs12563505	0.84[EUR][1000 genomes]
rs12564219	0.84[EUR][1000 genomes]
rs12566159	0.84[EUR][1000 genomes]
rs12568393	1.00[CEU][hapmap]
rs17129698	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17129700	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28464018	0.88[ASN][1000 genomes]
rs34017352	0.84[EUR][1000 genomes]
rs61780310	0.88[ASN][1000 genomes]
rs61780311	0.88[ASN][1000 genomes]
rs61780312	0.88[ASN][1000 genomes]
rs61780314	0.83[ASN][1000 genomes]
rs61780315	0.83[ASN][1000 genomes]
rs6693659	1.00[CEU][hapmap]

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	chr1:67632400-67632600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
8	chr1:67632400-67632600	Active TSS	GM12878-XiMat	blood
9	chr1:67632400-67634600	Active TSS	Primary Natural Killer cells fromperipheralblood	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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