Variant report

Variant	rs11653146
Chromosome Location	chr17:45815529-45815530
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11079788	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11650354	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11651000	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11652603	0.84[AFR][1000 genomes]
rs11655306	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs11657388	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11657479	1.00[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs12451801	0.96[ASN][1000 genomes]
rs17250932	0.96[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs41321047	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41519545	0.87[AFR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56254413	0.81[AMR][1000 genomes]
rs66490177	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72831632	0.98[AFR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72831681	0.85[AMR][1000 genomes]
rs7502875	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498122	chr17:45763853-46064327	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv908571	chr17:45765249-45821510	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
3	nsv2071	chr17:45801503-45844229	Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11653146	TBKBP1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45811400-45822000	Weak transcription	Right Atrium	heart
2	chr17:45814400-45818400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr17:45814400-45818400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr17:45814600-45816200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr17:45814600-45819800	Weak transcription	Spleen	Spleen
6	chr17:45814600-45820000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr17:45814600-45820000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr17:45814800-45815600	Weak transcription	Primary B cells from peripheral blood	blood
9	chr17:45814800-45815600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr17:45814800-45816200	Enhancers	Primary T cells fromperipheralblood	blood
11	chr17:45814800-45817800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr17:45815000-45816600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
13	chr17:45815200-45815600	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr17:45815200-45816400	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr17:45815200-45818200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr17:45815400-45816800	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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