Variant report

Variant	rs1808192
Chromosome Location	chr17:45794706-45794707
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:45784180..45787003-chr17:45793281..45796210,2	MCF-7	breast:
2	chr17:45794472..45797390-chr17:45802070..45804514,2	MCF-7	breast:
3	chr17:45770307..45773297-chr17:45792421..45795283,3	K562	blood:
4	chr17:45775927..45776860-chr17:45794556..45795445,3	MCF-7	breast:
5	chr17:45794311..45798621-chr17:45808122..45812352,4	K562	blood:
6	chr17:45767340..45768843-chr17:45793528..45796159,2	K562	blood:
7	chr17:45794177..45796836-chr17:45817673..45819234,2	K562	blood:
8	chr17:45791653..45795324-chr17:45796790..45798883,4	MCF-7	breast:
9	chr17:45778680..45780436-chr17:45793363..45794887,2	K562	blood:
10	chr17:45793676..45795435-chr17:45799934..45801549,2	MCF-7	breast:
11	chr17:45775717..45776971-chr17:45794268..45795096,4	K562	blood:
12	chr17:45794462..45797278-chr17:45822164..45823820,2	MCF-7	breast:
13	chr17:45769761..45774776-chr17:45792131..45795292,5	MCF-7	breast:
14	chr17:45775995..45777738-chr17:45793408..45795168,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000198933	Chromatin interaction
ENSG00000073861	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 11 )

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

rs_ID	r²[population]
rs2013383	0.90[GIH][hapmap];0.81[AMR][1000 genomes]
rs4267364	0.85[GIH][hapmap]
rs4794052	0.90[GIH][hapmap]
rs4794053	0.90[GIH][hapmap]
rs6503804	0.90[GIH][hapmap]
rs6503807	0.90[GIH][hapmap]
rs7219420	0.80[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs8075566	0.90[GIH][hapmap]
rs8078309	0.90[GIH][hapmap]
rs9913503	0.90[GIH][hapmap]

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	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

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs1808192	TBKBP1	cis	lung	GTEx
rs1808192	TBKBP1	cis	lymphoblastoid	seeQTL
rs1808192	TBKBP1	cis	Nerve Tibial	GTEx
rs1808192	TBKBP1	cis	multi-tissue	Pritchard
rs1808192	TBKBP1	cis	Skin Sun Exposed Lower leg	GTEx
rs1808192	TBKBP1	cis	Esophagus Mucosa	GTEx
rs1808192	MRPL45P2	cis	lymphoblastoid	seeQTL
rs1808192	TBKBP1	cis	Artery Tibial	GTEx
rs1808192	TBKBP1	cis	Artery Aorta	GTEx
rs1808192	TBKBP1	cis	Thyroid	GTEx
rs1808192	TBKBP1	cis	Whole Blood	GTEx

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45788200-45795200	Weak transcription	Pancreas	Pancrea
2	chr17:45788200-45799800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr17:45788400-45798000	Enhancers	Primary B cells from peripheral blood	blood
4	chr17:45788800-45795800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr17:45789200-45794800	Weak transcription	Thymus	Thymus
6	chr17:45789200-45795000	Weak transcription	Brain Angular Gyrus	brain
7	chr17:45789400-45795800	Enhancers	Primary T cells fromperipheralblood	blood
8	chr17:45789400-45798400	Weak transcription	Gastric	stomach
9	chr17:45789800-45795600	Weak transcription	Primary T cells from cord blood	blood
10	chr17:45790000-45799800	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr17:45790000-45810400	Weak transcription	Right Atrium	heart
12	chr17:45790600-45795000	Enhancers	Spleen	Spleen
13	chr17:45791000-45795400	Weak transcription	Lung	lung
14	chr17:45791600-45794800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr17:45791600-45795600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr17:45792200-45794800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr17:45792400-45796000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr17:45792400-45799200	Enhancers	Primary hematopoietic stem cells	blood
19	chr17:45792600-45796000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr17:45792800-45795200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr17:45792800-45796600	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr17:45792800-45796800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr17:45793200-45796000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr17:45793200-45800200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr17:45793400-45796800	Enhancers	Fetal Thymus	thymus
26	chr17:45793600-45795200	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr17:45793600-45796800	Weak transcription	Primary B cells from cord blood	blood
28	chr17:45793800-45796200	Enhancers	GM12878-XiMat	blood
29	chr17:45794000-45794800	Bivalent Enhancer	Fetal Muscle Leg	muscle
30	chr17:45794200-45794800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
31	chr17:45794200-45800200	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr17:45794400-45795600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr17:45794400-45798400	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr17:45794400-45798600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr17:45794600-45794800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr17:45794600-45795000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
37	chr17:45794600-45795000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
38	chr17:45794600-45795200	Enhancers	H1 Cell Line	embryonic stem cell
39	chr17:45794600-45795400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr17:45794600-45796400	Bivalent Enhancer	Osteobl	bone
41	chr17:45794600-45796600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr17:45794600-45796800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
43	chr17:45794600-45798800	Bivalent Enhancer	NHLF	lung
44	chr17:45794600-45799000	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr17:45794600-45799200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr17:45794600-45800000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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