Variant report

Variant	rs34589418
Chromosome Location	chr17:45398085-45398086
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	chr17:45346995..45349121-chr17:45397201..45400062,2	K562	blood:
2	chr17:45264537..45266755-chr17:45396250..45398578,2	K562	blood:

Variant related genes	Relation type
ENSG00000004897	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11079772	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11650072	0.82[EUR][1000 genomes]
rs11658426	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12600865	0.96[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	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2271803	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2317677	0.82[EUR][1000 genomes]
rs35161461	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35435669	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35983484	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3760372	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3809865	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4968314	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4968316	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6504833	0.82[EUR][1000 genomes]
rs6504836	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7214993	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs7216112	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7218813	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7221232	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7224753	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7225700	0.82[EUR][1000 genomes]
rs8075410	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9303534	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9893410	0.96[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]

Variant overlapped rSNPs/rCNVs (count:2 , 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	nsv962445	chr17:45397004-45428018	Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs34589418	TBKBP1	cis	Skin Sun Exposed Lower leg	GTEx
rs34589418	TBKBP1	cis	lung	GTEx
rs34589418	KPNB1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45382800-45400800	Weak transcription	Lung	lung
2	chr17:45388800-45400800	Weak transcription	Aorta	Aorta
3	chr17:45391200-45400800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr17:45393000-45398200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr17:45393000-45400600	Weak transcription	Brain Angular Gyrus	brain
6	chr17:45393200-45400600	Weak transcription	Brain Cingulate Gyrus	brain
7	chr17:45393200-45400600	Weak transcription	Colon Smooth Muscle	Colon
8	chr17:45393200-45400600	Weak transcription	Fetal Heart	heart
9	chr17:45393200-45400600	Weak transcription	Pancreas	Pancrea
10	chr17:45393600-45398400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr17:45394200-45400600	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr17:45394200-45400600	Weak transcription	Rectal Smooth Muscle	rectum
13	chr17:45394400-45400000	Weak transcription	HUVEC	blood vessel
14	chr17:45394600-45398400	Weak transcription	Adipose Nuclei	Adipose
15	chr17:45394800-45399800	Weak transcription	Hela-S3	cervix
16	chr17:45394800-45400200	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr17:45394800-45400400	Weak transcription	NH-A	brain
18	chr17:45394800-45400600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr17:45394800-45400600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr17:45395000-45400000	Weak transcription	NHDF-Ad	bronchial
21	chr17:45395200-45400600	Weak transcription	Fetal Intestine Small	intestine
22	chr17:45395200-45400600	Weak transcription	Osteobl	bone
23	chr17:45396200-45398400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr17:45396200-45400600	Weak transcription	HSMMtube	muscle
25	chr17:45398000-45398400	ZNF genes & repeats	Fetal Stomach	stomach
26	chr17:45398000-45398800	ZNF genes & repeats	Fetal Muscle Leg	muscle

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