Variant report

Variant	rs7224753
Chromosome Location	chr17:45374980-45374981
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:45373943..45375464-chr17:45378021..45379653,2	K562	blood:
2	chr17:45369846..45373285-chr17:45374240..45379330,4	K562	blood:
3	chr17:45373564..45376277-chr17:45383806..45386110,2	K562	blood:
4	chr17:45311474..45313567-chr17:45373513..45375488,2	K562	blood:
5	chr17:45372166..45375464-chr17:45377689..45379653,5	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11079772	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11658426	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12600865	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1969267	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2271803	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34589418	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35161461	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35435669	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35983484	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3760372	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3809865	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4968314	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4968316	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6504836	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7214993	0.83[AMR][1000 genomes]
rs7218813	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7221232	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8075410	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9303534	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9893410	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7224753	TBKBP1	cis	lung	GTEx
rs7224753	TBKBP1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45356800-45377200	Weak transcription	Fetal Intestine Large	intestine
2	chr17:45357200-45398000	Weak transcription	Psoas Muscle	Psoas
3	chr17:45358200-45377200	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr17:45359000-45389800	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr17:45370000-45376600	Weak transcription	Pancreas	Pancrea
6	chr17:45370000-45378000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr17:45371000-45377200	Weak transcription	Fetal Heart	heart
8	chr17:45371400-45393000	Weak transcription	Dnd41	blood
9	chr17:45372200-45375400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr17:45372200-45375800	Weak transcription	Rectal Smooth Muscle	rectum
11	chr17:45372400-45376600	Weak transcription	Fetal Intestine Small	intestine
12	chr17:45372400-45383600	Weak transcription	Gastric	stomach
13	chr17:45372400-45389600	Weak transcription	Esophagus	oesophagus
14	chr17:45372400-45389800	Weak transcription	Duodenum Mucosa	Duodenum
15	chr17:45372400-45394400	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr17:45372600-45375400	Weak transcription	Primary B cells from cord blood	blood
17	chr17:45372600-45376600	Weak transcription	Liver	Liver
18	chr17:45372600-45377200	Weak transcription	NHDF-Ad	bronchial
19	chr17:45372800-45375400	Weak transcription	HSMMtube	muscle
20	chr17:45372800-45376600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr17:45372800-45377600	Weak transcription	Osteobl	bone
22	chr17:45372800-45377800	Weak transcription	HUVEC	blood vessel
23	chr17:45372800-45379200	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr17:45372800-45379200	Weak transcription	Fetal Lung	lung
25	chr17:45372800-45381400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr17:45372800-45382800	Weak transcription	Colonic Mucosa	Colon
27	chr17:45373000-45377200	Weak transcription	Left Ventricle	heart
28	chr17:45373000-45377800	Weak transcription	Ovary	ovary
29	chr17:45373000-45378000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr17:45373000-45378000	Weak transcription	K562	blood
31	chr17:45373000-45379200	Weak transcription	NHLF	lung
32	chr17:45373400-45375000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr17:45373400-45376600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr17:45373400-45377200	Weak transcription	Right Ventricle	heart
35	chr17:45373400-45378000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr17:45373600-45375000	Weak transcription	Adipose Nuclei	Adipose
37	chr17:45373600-45375800	Weak transcription	Aorta	Aorta
38	chr17:45373600-45375800	Weak transcription	Fetal Muscle Leg	muscle
39	chr17:45373600-45376000	Weak transcription	Lung	lung
40	chr17:45373600-45376000	Weak transcription	Stomach Smooth Muscle	stomach
41	chr17:45373600-45376400	Weak transcription	Placenta	Placenta
42	chr17:45373600-45376800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr17:45373600-45382600	Weak transcription	Spleen	Spleen
44	chr17:45373800-45375800	Weak transcription	Fetal Stomach	stomach
45	chr17:45374000-45375000	Strong transcription	Fetal Muscle Trunk	muscle
46	chr17:45374000-45375600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr17:45374000-45376200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr17:45374000-45392800	Weak transcription	Brain Substantia Nigra	brain
49	chr17:45374200-45378400	Weak transcription	Brain Angular Gyrus	brain
50	chr17:45374400-45377200	Enhancers	Breast Myoepithelial Primary Cells	Breast

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