Variant report

Variant	rs1969267
Chromosome Location	chr17:45380399-45380400
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:45375988..45378357-chr17:45379217..45383019,3	K562	blood:
2	chr17:45377393..45380597-chr17:45384667..45388953,5	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11079772	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11658426	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12600865	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12948299	0.80[ASN][1000 genomes]
rs2271803	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34589418	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35161461	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35435669	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35983484	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3760372	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3809865	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4968314	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4968316	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6504836	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7214993	0.83[AMR][1000 genomes]
rs7216112	0.80[ASN][1000 genomes]
rs7218813	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7221232	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7224753	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8075410	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9303534	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9893410	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[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
rs1969267	TBKBP1	cis	Skin Sun Exposed Lower leg	GTEx
rs1969267	TBKBP1	cis	lung	GTEx

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45357200-45398000	Weak transcription	Psoas Muscle	Psoas
2	chr17:45359000-45389800	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr17:45371400-45393000	Weak transcription	Dnd41	blood
4	chr17:45372400-45383600	Weak transcription	Gastric	stomach
5	chr17:45372400-45389600	Weak transcription	Esophagus	oesophagus
6	chr17:45372400-45389800	Weak transcription	Duodenum Mucosa	Duodenum
7	chr17:45372400-45394400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr17:45372800-45381400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr17:45372800-45382800	Weak transcription	Colonic Mucosa	Colon
10	chr17:45373600-45382600	Weak transcription	Spleen	Spleen
11	chr17:45374000-45392800	Weak transcription	Brain Substantia Nigra	brain
12	chr17:45375400-45388400	Strong transcription	Fetal Muscle Trunk	muscle
13	chr17:45375600-45381600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr17:45375600-45381800	Strong transcription	Colon Smooth Muscle	Colon
15	chr17:45375800-45381400	Strong transcription	Aorta	Aorta
16	chr17:45375800-45382800	Strong transcription	Fetal Stomach	stomach
17	chr17:45376000-45382600	Strong transcription	Stomach Smooth Muscle	stomach
18	chr17:45376200-45382400	Weak transcription	HSMM	muscle
19	chr17:45376200-45389200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr17:45376400-45381800	Strong transcription	Placenta	Placenta
21	chr17:45376800-45381800	Strong transcription	Duodenum Smooth Muscle	Duodenum
22	chr17:45377200-45381000	Strong transcription	NHDF-Ad	bronchial
23	chr17:45377200-45381600	Strong transcription	Left Ventricle	heart
24	chr17:45377200-45383400	Weak transcription	Pancreas	Pancrea
25	chr17:45377400-45381600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr17:45377600-45381600	Strong transcription	Osteobl	bone
27	chr17:45377800-45380400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr17:45377800-45381200	Strong transcription	HUVEC	blood vessel
29	chr17:45378200-45381000	Weak transcription	Fetal Intestine Large	intestine
30	chr17:45379000-45382200	Weak transcription	Hela-S3	cervix
31	chr17:45379200-45380400	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr17:45379200-45382600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr17:45379400-45382400	Weak transcription	GM12878-XiMat	blood
34	chr17:45379400-45382600	Weak transcription	K562	blood
35	chr17:45379600-45381400	Strong transcription	Liver	Liver
36	chr17:45379600-45382600	Strong transcription	Fetal Muscle Leg	muscle
37	chr17:45379600-45390400	Weak transcription	Fetal Intestine Small	intestine
38	chr17:45379800-45380400	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr17:45379800-45382400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr17:45379800-45382400	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr17:45379800-45382400	Weak transcription	Rectal Smooth Muscle	rectum
42	chr17:45379800-45382600	Weak transcription	Right Ventricle	heart
43	chr17:45380000-45381600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr17:45380000-45381800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr17:45380000-45382400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr17:45380000-45382600	Weak transcription	Adipose Nuclei	Adipose
47	chr17:45380200-45382200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr17:45380200-45382200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr17:45380200-45382200	Weak transcription	NHLF	lung
50	chr17:45380200-45382400	Weak transcription	HSMMtube	muscle

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