Variant report

Variant	rs11079787
Chromosome Location	chr17:45813225-45813226
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:45806529..45809285-chr17:45811210..45813410,2	MCF-7	breast:
2	chr17:45811931..45814457-chr17:45821701..45824432,2	MCF-7	breast:
3	chr17:45796425..45798903-chr17:45812592..45814679,2	MCF-7	breast:
4	chr17:45770190..45771864-chr17:45811721..45814542,2	K562	blood:
5	chr17:45811192..45813329-chr17:45818442..45821780,3	K562	blood:

Variant related genes	Relation type
ENSG00000198933	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11652969	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16947058	0.85[ASN][1000 genomes]
rs7215477	0.80[AFR][1000 genomes]
rs8078974	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[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:5)

SNP	Gene	Cis/trans	Tissue	Source
rs11079787	TBKBP1	cis	Artery Aorta	GTEx
rs11079787	TBKBP1	cis	Whole Blood	GTEx
rs11079787	TBKBP1	cis	Nerve Tibial	GTEx
rs11079787	TBKBP1	cis	Artery Tibial	GTEx
rs11079787	TBKBP1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45810400-45813400	Active TSS	Primary T killer memory cells from peripheral blood	blood
2	chr17:45810400-45814000	Active TSS	Primary T helper cells PMA-I stimulated	--
3	chr17:45810400-45814400	Active TSS	Primary T helper naive cells from peripheral blood	blood
4	chr17:45811200-45814600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
5	chr17:45811400-45822000	Weak transcription	Right Atrium	heart
6	chr17:45811600-45813400	Enhancers	Primary B cells from cord blood	blood
7	chr17:45811600-45813400	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
8	chr17:45811800-45813600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
9	chr17:45812400-45814800	Flanking Active TSS	GM12878-XiMat	blood
10	chr17:45812400-45815000	Transcr. at gene 5' and 3'	Primary Natural Killer cells fromperipheralblood	blood
11	chr17:45812600-45813400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
12	chr17:45812600-45814200	Weak transcription	Spleen	Spleen
13	chr17:45812800-45813600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
14	chr17:45813000-45813800	Active TSS	Primary T cells fromperipheralblood	blood
15	chr17:45813000-45814200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr17:45813000-45814800	Enhancers	Primary B cells from peripheral blood	blood
17	chr17:45813200-45813400	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
18	chr17:45813200-45813400	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
19	chr17:45813200-45813600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
20	chr17:45813200-45814200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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