Variant report

Variant	rs9905583
Chromosome Location	chr17:45741016-45741017
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:21 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:45740941-45741385	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr17:45740472-45741401	PFSK-1	brain:	n/a	n/a
3	POLR2A	chr17:45741008-45741032	ProgFib	skin:	n/a	n/a
4	POLR2A	chr17:45740918-45741344	K562	blood:	n/a	n/a
5	POLR2A	chr17:45740534-45741441	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr17:45740966-45741506	K562	blood:	n/a	n/a
7	POLR2A	chr17:45740933-45742164	K562	blood:	n/a	n/a
8	POLR2A	chr17:45738137-45742216	PANC-1	pancreas:	n/a	n/a
9	POLR2A	chr17:45740991-45741172	MCF-7	breast:	n/a	n/a
10	POLR2A	chr17:45740790-45741392	K562	blood:	n/a	n/a
11	POLR2A	chr17:45740268-45741708	HepG2	liver:	n/a	n/a
12	POLR2A	chr17:45740451-45743175	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr17:45740707-45742139	GM12892	blood:	n/a	n/a
14	POLR2A	chr17:45740855-45741384	GM12891	blood:	n/a	n/a
15	POLR2A	chr17:45740922-45742124	K562	blood:	n/a	n/a
16	POLR2A	chr17:45740570-45741200	GM12891	blood:	n/a	n/a
17	CTCF	chr17:45740958-45741025	Medullo	brain:	n/a	n/a
18	POLR2A	chr17:45740425-45742176	GM12878	blood:	n/a	n/a
19	POLR2A	chr17:45740141-45742135	SK-N-MC	brain:	n/a	n/a
20	POLR2A	chr17:45740837-45742205	GM12892	blood:	n/a	n/a
21	POLR2A	chr17:45740594-45742165	GM12892	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:45739359..45743830-chr17:45751715..45754078,4	K562	blood:
2	chr17:45725155..45731513-chr17:45739091..45743405,6	MCF-7	breast:
3	chr17:45739146..45741935-chr17:45773163..45775798,2	K562	blood:
4	chr17:45727442..45729892-chr17:45739351..45741247,2	MCF-7	breast:
5	chr17:45740425..45743047-chr17:45769342..45771775,2	K562	blood:
6	chr17:45738206..45745873-chr17:45748268..45754078,8	K562	blood:

No data

Variant related genes	Relation type
KPNB1	TF binding region
ENSG00000263766	Chromatin interaction
ENSG00000108424	Chromatin interaction
ENSG00000198933	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10163469	0.85[EUR][1000 genomes]
rs10853090	0.94[EUR][1000 genomes]
rs11079784	0.92[EUR][1000 genomes]
rs11650372	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11656855	0.94[EUR][1000 genomes]
rs11870935	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11871606	0.96[EUR][1000 genomes]
rs12150231	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12603290	0.82[ASN][1000 genomes]
rs12937560	0.81[EUR][1000 genomes]
rs12943464	0.90[EUR][1000 genomes]
rs2317826	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3760370	0.91[EUR][1000 genomes]
rs3809868	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4239162	0.94[EUR][1000 genomes]
rs4239163	0.94[EUR][1000 genomes]
rs4264433	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4289035	0.93[EUR][1000 genomes]
rs4375701	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4399567	0.95[EUR][1000 genomes]
rs4580230	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4793842	0.86[EUR][1000 genomes]
rs4793908	0.88[EUR][1000 genomes]
rs4793913	0.87[EUR][1000 genomes]
rs4793978	0.92[EUR][1000 genomes]
rs4794001	0.94[EUR][1000 genomes]
rs4794016	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4794047	0.89[ASN][1000 genomes]
rs4794048	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55633793	0.90[EUR][1000 genomes]
rs56226803	0.97[EUR][1000 genomes]
rs62074014	0.82[ASN][1000 genomes]
rs7207542	0.87[EUR][1000 genomes]
rs7210738	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7219303	0.97[EUR][1000 genomes]
rs7220935	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7223029	0.91[EUR][1000 genomes]
rs7223246	0.82[AFR][1000 genomes]
rs73315878	0.95[EUR][1000 genomes]
rs8065437	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8065669	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8072100	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8075411	0.89[EUR][1000 genomes]
rs8078686	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8078880	0.89[EUR][1000 genomes]
rs8081717	0.81[ASN][1000 genomes]
rs9905922	0.96[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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs9905583	KPNB1	Cis_1M	lymphoblastoid	RTeQTL
rs9905583	TBKBP1	cis	Nerve Tibial	GTEx
rs9905583	TBKBP1	cis	Artery Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45728800-45742400	Strong transcription	H9 Cell Line	embryonic stem cell
2	chr17:45728800-45744600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr17:45728800-45762800	Strong transcription	Fetal Stomach	stomach
4	chr17:45728800-45765600	Strong transcription	Fetal Muscle Trunk	muscle
5	chr17:45729000-45743400	Strong transcription	Placenta Amnion	Placenta Amnion
6	chr17:45729200-45760400	Strong transcription	Fetal Muscle Leg	muscle
7	chr17:45729200-45760600	Strong transcription	Fetal Brain Female	brain
8	chr17:45729200-45763800	Strong transcription	Placenta	Placenta
9	chr17:45729400-45741800	Strong transcription	H1 Cell Line	embryonic stem cell
10	chr17:45729600-45742200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr17:45729600-45762600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr17:45729800-45752000	Strong transcription	Left Ventricle	heart
13	chr17:45729800-45761600	Strong transcription	HSMM	muscle
14	chr17:45730000-45741600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
15	chr17:45730200-45741400	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr17:45730400-45741600	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr17:45730400-45764800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr17:45730400-45765000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr17:45730600-45741800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr17:45730800-45760600	Strong transcription	Lung	lung
21	chr17:45731000-45757600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr17:45731200-45762200	Strong transcription	Fetal Lung	lung
23	chr17:45731200-45763800	Strong transcription	K562	blood
24	chr17:45731400-45741600	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr17:45731400-45744600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr17:45731400-45762000	Strong transcription	NH-A	brain
27	chr17:45732400-45743600	Strong transcription	NHDF-Ad	bronchial
28	chr17:45732400-45753400	Weak transcription	Right Atrium	heart
29	chr17:45732400-45762600	Strong transcription	Sigmoid Colon	Sigmoid Colon
30	chr17:45732600-45743400	Strong transcription	NHLF	lung
31	chr17:45732600-45748400	Strong transcription	Muscle Satellite Cultured Cells	--
32	chr17:45732600-45760200	Strong transcription	Brain Germinal Matrix	brain
33	chr17:45732600-45760400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr17:45732600-45762000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr17:45732600-45762200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr17:45732800-45742600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr17:45732800-45750600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr17:45732800-45753200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr17:45732800-45760200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr17:45732800-45760600	Strong transcription	Fetal Intestine Large	intestine
41	chr17:45732800-45762200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr17:45732800-45762200	Strong transcription	Adipose Nuclei	Adipose
43	chr17:45732800-45762600	Strong transcription	Brain Anterior Caudate	brain
44	chr17:45733000-45742800	Strong transcription	A549	lung
45	chr17:45733000-45745600	Strong transcription	Osteobl	bone
46	chr17:45733000-45759200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr17:45733000-45759400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr17:45733000-45761600	Strong transcription	HepG2	liver
49	chr17:45733000-45763600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr17:45733200-45742600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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