Variant report

Variant	rs6505048
Chromosome Location	chr17:45674998-45674999
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10163469	0.87[AFR][1000 genomes]
rs11079783	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11656056	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11656855	0.82[AFR][1000 genomes]
rs11656856	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12936468	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1962307	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34200664	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3760370	0.82[AFR][1000 genomes]
rs3760371	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4793836	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4793842	0.84[AFR][1000 genomes]
rs4793908	0.90[AFR][1000 genomes]
rs4793913	0.86[AFR][1000 genomes]
rs62074016	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6505049	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6505062	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7207542	0.83[AFR][1000 genomes]
rs7213086	0.80[EUR][1000 genomes]
rs7214799	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7222225	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8075411	0.89[AFR][1000 genomes]
rs9891111	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 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	nsv516872	chr17:45419139-45702280	Strong transcription Genic enhancers Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv525267	chr17:45451894-45735706	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv833468	chr17:45511563-45683164	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv469573	chr17:45511582-45698942	Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv471701	chr17:45511583-45698942	Genic enhancers Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	esv1811231	chr17:45520374-45764956	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
8	esv1813964	chr17:45520374-45764956	Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
9	esv2758458	chr17:45520374-45764956	Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
10	esv2758693	chr17:45520374-45764956	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
11	nsv428344	chr17:45520374-45764956	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
12	nsv908570	chr17:45571502-45684651	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
13	esv1818529	chr17:45583088-45683095	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
14	nsv471403	chr17:45608444-45700642	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
15	nsv482203	chr17:45608444-45700642	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
16	esv1808701	chr17:45610793-45675401	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
17	esv1814312	chr17:45611212-45683095	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
18	esv1815163	chr17:45616653-45675272	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
19	esv1847040	chr17:45635179-45683095	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs6505048	TBKBP1	cis	lung	GTEx
rs6505048	TBKBP1	cis	Artery Aorta	GTEx
rs6505048	TBKBP1	cis	Artery Tibial	GTEx
rs6505048	TBKBP1	cis	Skin Sun Exposed Lower leg	GTEx
rs6505048	TBKBP1	cis	Whole Blood	GTEx
rs6505048	TBKBP1	cis	Nerve Tibial	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45610000-45676800	Weak transcription	Ovary	ovary
2	chr17:45637800-45678800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr17:45639600-45675000	Weak transcription	Brain Angular Gyrus	brain
4	chr17:45639800-45676800	Weak transcription	Brain Anterior Caudate	brain
5	chr17:45641000-45678000	Weak transcription	Brain Cingulate Gyrus	brain
6	chr17:45641400-45675000	Weak transcription	Primary hematopoietic stem cells	blood
7	chr17:45644200-45675200	Weak transcription	GM12878-XiMat	blood
8	chr17:45644400-45683800	Weak transcription	Spleen	Spleen
9	chr17:45645600-45678200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr17:45647800-45677000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr17:45647800-45684800	Weak transcription	Gastric	stomach
12	chr17:45649600-45675200	Weak transcription	Right Ventricle	heart
13	chr17:45657200-45688200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr17:45657800-45678800	Weak transcription	NHEK	skin
15	chr17:45659000-45676800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr17:45659200-45678600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr17:45659200-45698800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr17:45659600-45675000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr17:45662600-45689800	Weak transcription	Psoas Muscle	Psoas
20	chr17:45662800-45675800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr17:45663600-45677200	Weak transcription	Aorta	Aorta
22	chr17:45663800-45702800	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr17:45664000-45677000	Weak transcription	Fetal Lung	lung
24	chr17:45664800-45695000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr17:45665000-45677200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr17:45665000-45681000	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr17:45665600-45680600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr17:45665600-45686200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr17:45665600-45698200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr17:45665800-45677400	Weak transcription	Rectal Smooth Muscle	rectum
31	chr17:45666000-45694200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr17:45666200-45678200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr17:45666200-45688200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr17:45666400-45677000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr17:45666800-45687200	Strong transcription	Placenta	Placenta
36	chr17:45666800-45693600	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr17:45667000-45680800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr17:45667200-45681000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr17:45667200-45687400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr17:45667200-45698600	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr17:45667400-45682600	Strong transcription	Adipose Nuclei	Adipose
42	chr17:45667400-45685600	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr17:45667400-45687400	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr17:45667400-45687800	Strong transcription	Liver	Liver
45	chr17:45667400-45718200	Strong transcription	Primary neutrophils fromperipheralblood	blood
46	chr17:45668000-45675200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr17:45668200-45688400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr17:45668200-45699000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr17:45669200-45675600	Weak transcription	Brain Germinal Matrix	brain
50	chr17:45669200-45687000	Strong transcription	iPS-18 Cell Line	embryonic stem cell

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