Variant report

Variant	rs4794057
Chromosome Location	chr17:45786452-45786453
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:45785203..45787542-chr17:49025018..49027418,2	MCF-7	breast:
2	chr17:45784180..45787003-chr17:45793281..45796210,2	MCF-7	breast:
3	chr17:45769737..45776634-chr17:45782264..45787954,12	K562	blood:
4	chr17:45784401..45787875-chr17:45788488..45791249,4	MCF-7	breast:
5	chr17:45777137..45782464-chr17:45784675..45788885,8	K562	blood:
6	chr17:45757742..45760648-chr17:45785190..45787217,2	K562	blood:

Variant related genes	Relation type
ENSG00000264558	Chromatin interaction
ENSG00000108424	Chromatin interaction
ENSG00000198933	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs4439799	0.86[EUR][1000 genomes]
rs4561509	0.86[EUR][1000 genomes]
rs62074055	0.82[EUR][1000 genomes]
rs67919208	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8070463	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	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
3	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
4	esv3324718	chr17:45784978-45787926	Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	esv3322244	chr17:45785753-45787001	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs4794057	TBKBP1	cis	Skin Sun Exposed Lower leg	GTEx
rs4794057	TBKBP1	cis	Whole Blood	GTEx
rs4794057	TBKBP1	cis	Artery Tibial	GTEx
rs4794057	TBKBP1	cis	lung	GTEx
rs4794057	TBKBP1	cis	Nerve Tibial	GTEx
rs4794057	TBKBP1	cis	Thyroid	GTEx
rs4794057	TBKBP1	cis	Artery Aorta	GTEx

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45773400-45790600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr17:45775000-45790800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr17:45778600-45788200	Weak transcription	HUVEC	blood vessel
4	chr17:45779400-45786600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr17:45779400-45786800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr17:45779600-45788000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr17:45781600-45787000	Genic enhancers	Fetal Muscle Leg	muscle
8	chr17:45781800-45786800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr17:45782600-45790000	Weak transcription	A549	lung
10	chr17:45784000-45786600	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr17:45784400-45786800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr17:45784400-45789600	Weak transcription	NHDF-Ad	bronchial
13	chr17:45784600-45789000	Weak transcription	Thymus	Thymus
14	chr17:45784800-45786800	Weak transcription	Adipose Nuclei	Adipose
15	chr17:45784800-45788800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr17:45784800-45789600	Weak transcription	GM12878-XiMat	blood
17	chr17:45784800-45790200	Weak transcription	Liver	Liver
18	chr17:45785000-45787000	Weak transcription	Fetal Lung	lung
19	chr17:45785000-45789200	Weak transcription	Primary B cells from cord blood	blood
20	chr17:45785000-45791600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr17:45785200-45787000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr17:45785200-45787200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr17:45785200-45788400	Weak transcription	Primary B cells from peripheral blood	blood
24	chr17:45785200-45788400	Weak transcription	Fetal Thymus	thymus
25	chr17:45785200-45788600	Weak transcription	Primary T cells from cord blood	blood
26	chr17:45785200-45789200	Weak transcription	Primary hematopoietic stem cells	blood
27	chr17:45785200-45789200	Weak transcription	HepG2	liver
28	chr17:45785200-45789400	Weak transcription	K562	blood
29	chr17:45785200-45789600	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr17:45785200-45789600	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr17:45785400-45786800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr17:45785400-45787600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr17:45785400-45788600	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr17:45785400-45790000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr17:45785400-45791200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr17:45785400-45791200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr17:45785600-45786600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr17:45785600-45786600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr17:45785600-45786600	Active TSS	Brain Hippocampus Middle	brain
40	chr17:45785600-45786600	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr17:45785600-45786800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
42	chr17:45785600-45786800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr17:45785600-45786800	Genic enhancers	Lung	lung
44	chr17:45785600-45786800	Active TSS	Rectal Smooth Muscle	rectum
45	chr17:45785600-45786800	Active TSS	Stomach Smooth Muscle	stomach
46	chr17:45785600-45787000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
47	chr17:45785600-45787000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr17:45785600-45787600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr17:45785600-45788200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr17:45785600-45788200	Weak transcription	Duodenum Mucosa	Duodenum

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