Variant report

Variant	rs4968314
Chromosome Location	chr17:45394441-45394442
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:45302596..45304693-chr17:45393589..45396501,2	MCF-7	breast:
2	chr17:45392004..45394698-chr17:45404248..45406191,2	K562	blood:
3	chr17:45305601..45307191-chr17:45393436..45394974,2	K562	blood:
4	chr17:45386706..45389041-chr17:45392515..45394935,2	K562	blood:
5	chr17:45290115..45292672-chr17:45392018..45394562,2	K562	blood:

Variant related genes	Relation type
ENSG00000178852	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11079772	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11650072	0.82[EUR][1000 genomes]
rs11658426	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12600865	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12948299	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1969267	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2271803	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2317677	0.82[EUR][1000 genomes]
rs34589418	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35161461	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35435669	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35983484	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3760372	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3809865	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4968316	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6504833	0.82[EUR][1000 genomes]
rs6504836	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7214993	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs7216112	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7218813	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7221232	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7224753	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7225700	0.82[EUR][1000 genomes]
rs8075410	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9303534	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9893410	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9894860	0.82[EUR][1000 genomes]
rs9899121	0.82[EUR][1000 genomes]
rs9916007	0.81[AMR][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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4968314	TBKBP1	cis	lung	GTEx
rs4968314	TBKBP1	cis	Skin Sun Exposed Lower leg	GTEx
rs4968314	KPNB1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45357200-45398000	Weak transcription	Psoas Muscle	Psoas
2	chr17:45382800-45394600	Weak transcription	Small Intestine	intestine
3	chr17:45382800-45400800	Weak transcription	Lung	lung
4	chr17:45388400-45398000	Weak transcription	Fetal Muscle Trunk	muscle
5	chr17:45388800-45400800	Weak transcription	Aorta	Aorta
6	chr17:45391200-45394600	Enhancers	Muscle Satellite Cultured Cells	--
7	chr17:45391200-45394800	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr17:45391200-45400800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr17:45391800-45395000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr17:45392000-45394800	Enhancers	NH-A	brain
11	chr17:45392000-45395000	Enhancers	NHLF	lung
12	chr17:45392000-45395200	Enhancers	Osteobl	bone
13	chr17:45392200-45394800	Enhancers	Hela-S3	cervix
14	chr17:45392200-45395000	Enhancers	NHDF-Ad	bronchial
15	chr17:45392400-45395600	Weak transcription	GM12878-XiMat	blood
16	chr17:45392600-45394800	Enhancers	Liver	Liver
17	chr17:45392800-45394800	Enhancers	Fetal Intestine Large	intestine
18	chr17:45392800-45394800	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr17:45392800-45395000	Enhancers	HepG2	liver
20	chr17:45392800-45395200	Enhancers	Fetal Intestine Small	intestine
21	chr17:45393000-45394800	Enhancers	Duodenum Mucosa	Duodenum
22	chr17:45393000-45398000	Weak transcription	Fetal Muscle Leg	muscle
23	chr17:45393000-45398200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr17:45393000-45400600	Weak transcription	Brain Angular Gyrus	brain
25	chr17:45393200-45395800	Weak transcription	HSMMtube	muscle
26	chr17:45393200-45400600	Weak transcription	Brain Cingulate Gyrus	brain
27	chr17:45393200-45400600	Weak transcription	Colon Smooth Muscle	Colon
28	chr17:45393200-45400600	Weak transcription	Fetal Heart	heart
29	chr17:45393200-45400600	Weak transcription	Pancreas	Pancrea
30	chr17:45393600-45394600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr17:45393600-45395200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr17:45393600-45398000	Weak transcription	Fetal Stomach	stomach
33	chr17:45393600-45398400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr17:45393800-45394800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr17:45393800-45395000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr17:45393800-45395800	Weak transcription	A549	lung
37	chr17:45394000-45394600	Enhancers	Adipose Nuclei	Adipose
38	chr17:45394200-45395200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr17:45394200-45400600	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr17:45394200-45400600	Weak transcription	Rectal Smooth Muscle	rectum
41	chr17:45394400-45394600	Enhancers	Stomach Smooth Muscle	stomach
42	chr17:45394400-45394800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr17:45394400-45394800	Enhancers	Colonic Mucosa	Colon
44	chr17:45394400-45394800	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr17:45394400-45395200	Enhancers	Stomach Mucosa	stomach
46	chr17:45394400-45400000	Weak transcription	HUVEC	blood vessel

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