Variant report

Variant	rs34200664
Chromosome Location	chr17:45744652-45744653
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:45744470-45744677	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr17:45743981-45744853	SK-N-MC	brain:	n/a	n/a
3	POLR2A	chr17:45744337-45744905	GM12878	blood:	n/a	n/a
4	POLR2A	chr17:45744257-45744988	PANC-1	pancreas:	n/a	n/a
5	POLR2A	chr17:45744609-45744864	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr17:45744605-45744678	MCF-7	breast:	n/a	n/a
7	POLR2A	chr17:45744475-45744830	HepG2	liver:	n/a	n/a
8	POLR2A	chr17:45744619-45744705	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:45726598..45732836-chr17:45743871..45749720,11	K562	blood:
2	chr17:45743966..45745807-chr17:45749328..45753090,3	K562	blood:
3	chr17:45738206..45745873-chr17:45748268..45754078,8	K562	blood:

Variant related genes	Relation type
KPNB1	TF binding region
ENSG00000108424	Chromatin interaction
ENSG00000263766	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11079783	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11656056	0.85[ASN][1000 genomes]
rs11656856	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12936468	0.81[EUR][1000 genomes]
rs1962307	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3760371	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62074016	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6505048	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6505049	0.84[EUR][1000 genomes]
rs6505062	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7213086	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7214799	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7222225	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9891111	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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
3	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
4	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
5	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
6	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

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs34200664	TBKBP1	cis	Artery Aorta	GTEx
rs34200664	TBKBP1	cis	Skin Sun Exposed Lower leg	GTEx
rs34200664	TBKBP1	cis	Nerve Tibial	GTEx
rs34200664	TBKBP1	cis	Whole Blood	GTEx
rs34200664	TBKBP1	cis	Artery Tibial	GTEx
rs34200664	TBKBP1	cis	lung	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45728800-45762800	Strong transcription	Fetal Stomach	stomach
2	chr17:45728800-45765600	Strong transcription	Fetal Muscle Trunk	muscle
3	chr17:45729200-45760400	Strong transcription	Fetal Muscle Leg	muscle
4	chr17:45729200-45760600	Strong transcription	Fetal Brain Female	brain
5	chr17:45729200-45763800	Strong transcription	Placenta	Placenta
6	chr17:45729600-45762600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr17:45729800-45752000	Strong transcription	Left Ventricle	heart
8	chr17:45729800-45761600	Strong transcription	HSMM	muscle
9	chr17:45730400-45764800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr17:45730400-45765000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr17:45730800-45760600	Strong transcription	Lung	lung
12	chr17:45731000-45757600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr17:45731200-45762200	Strong transcription	Fetal Lung	lung
14	chr17:45731200-45763800	Strong transcription	K562	blood
15	chr17:45731400-45762000	Strong transcription	NH-A	brain
16	chr17:45732400-45753400	Weak transcription	Right Atrium	heart
17	chr17:45732400-45762600	Strong transcription	Sigmoid Colon	Sigmoid Colon
18	chr17:45732600-45748400	Strong transcription	Muscle Satellite Cultured Cells	--
19	chr17:45732600-45760200	Strong transcription	Brain Germinal Matrix	brain
20	chr17:45732600-45760400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr17:45732600-45762000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr17:45732600-45762200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr17:45732800-45750600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr17:45732800-45753200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr17:45732800-45760200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr17:45732800-45760600	Strong transcription	Fetal Intestine Large	intestine
27	chr17:45732800-45762200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr17:45732800-45762200	Strong transcription	Adipose Nuclei	Adipose
29	chr17:45732800-45762600	Strong transcription	Brain Anterior Caudate	brain
30	chr17:45733000-45745600	Strong transcription	Osteobl	bone
31	chr17:45733000-45759200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr17:45733000-45759400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr17:45733000-45761600	Strong transcription	HepG2	liver
34	chr17:45733000-45763600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr17:45733200-45760200	Strong transcription	Brain Cingulate Gyrus	brain
36	chr17:45733200-45760400	Strong transcription	Hela-S3	cervix
37	chr17:45733200-45762400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr17:45733200-45763400	Strong transcription	NHEK	skin
39	chr17:45733200-45765000	Strong transcription	HMEC	breast
40	chr17:45733800-45753200	Strong transcription	Skeletal Muscle Female	skeletal muscle
41	chr17:45734000-45751000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr17:45735400-45757600	Strong transcription	HUVEC	blood vessel
43	chr17:45736000-45747200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr17:45736200-45763600	Strong transcription	Dnd41	blood
45	chr17:45737000-45762400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr17:45737800-45762600	Strong transcription	Thymus	Thymus
47	chr17:45737800-45764200	Strong transcription	Duodenum Mucosa	Duodenum
48	chr17:45738000-45760200	Strong transcription	Rectal Smooth Muscle	rectum
49	chr17:45738000-45762600	Strong transcription	Duodenum Smooth Muscle	Duodenum
50	chr17:45738000-45763800	Strong transcription	Liver	Liver

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