Variant report

Variant	rs7213086
Chromosome Location	chr17:45752310-45752311
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:22 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:45752248-45752606	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr17:45751417-45752430	GM12892	blood:	n/a	n/a
3	POLR2A	chr17:45751978-45752350	GM12878	blood:	n/a	n/a
4	POLR2A	chr17:45751975-45752583	GM12891	blood:	n/a	n/a
5	POLR2A	chr17:45751918-45752755	PFSK-1	brain:	n/a	n/a
6	POLR2A	chr17:45751606-45752735	GM12892	blood:	n/a	n/a
7	POLR2A	chr17:45751904-45752334	GM12878	blood:	n/a	n/a
8	POLR2A	chr17:45751941-45752364	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr17:45751990-45752405	GM12891	blood:	n/a	n/a
10	POLR2A	chr17:45751960-45752604	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr17:45751183-45754680	SK-N-MC	brain:	n/a	n/a
12	POLR2A	chr17:45751885-45752821	GM12892	blood:	n/a	n/a
13	SIN3AK20	chr17:45750689-45752372	MCF-7	breast:	n/a	n/a
14	POLR2A	chr17:45751999-45752469	HL-60	blood:	n/a	n/a
15	POLR2A	chr17:45751343-45752669	GM12878	blood:	n/a	n/a
16	POLR2A	chr17:45752014-45752528	HepG2	liver:	n/a	n/a
17	POLR2A	chr17:45751931-45752556	K562	blood:	n/a	n/a
18	POLR2A	chr17:45751076-45752677	K562	blood:	n/a	n/a
19	POLR2A	chr17:45751876-45752557	GM12891	blood:	n/a	n/a
20	POLR2A	chr17:45748955-45752310	PANC-1	pancreas:	n/a	n/a
21	POLR2A	chr17:45751969-45752348	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr17:45751952-45752572	K562	blood:	n/a	n/a

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:45746374..45748956-chr17:45749904..45752496,2	K562	blood:
2	chr17:45739359..45743830-chr17:45751715..45754078,4	K562	blood:
3	chr17:45751990..45754304-chr17:45764467..45767340,2	K562	blood:
4	chr17:45731312..45732928-chr17:45751109..45752660,2	K562	blood:
5	chr17:45726781..45728822-chr17:45751860..45753994,2	K562	blood:
6	chr17:45751071..45752613-chr17:45773373..45775358,2	K562	blood:
7	chr17:45743966..45745807-chr17:45749328..45753090,3	K562	blood:
8	chr17:45731312..45734308-chr17:45751109..45753011,2	K562	blood:
9	chr17:45747412..45755395-chr17:49020513..49031227,19	MCF-7	breast:
10	chr17:45751302..45753563-chr6:26054221..26056562,2	MCF-7	breast:
11	chr17:45744726..45747306-chr17:45751155..45753211,2	MCF-7	breast:
12	chr17:45748131..45750319-chr17:45750676..45753617,2	MCF-7	breast:
13	chr17:45746087..45756915-chr17:48933264..48944991,33	MCF-7	breast:
14	chr17:45748954..45758231-chr17:45766475..45774270,24	MCF-7	breast:
15	chr17:45751758..45755455-chr17:45769353..45774872,5	MCF-7	breast:
16	chr17:45738206..45745873-chr17:45748268..45754078,8	K562	blood:

No data

Variant related genes	Relation type
KPNB1	TF binding region
ENSG00000108424	Chromatin interaction
ENSG00000263766	Chromatin interaction
ENSG00000198933	Chromatin interaction
ENSG00000141232	Chromatin interaction
ENSG00000247011	Chromatin interaction
ENSG00000229980	Chromatin interaction
ENSG00000251665	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10163469	0.94[ASN][1000 genomes]
rs10853090	0.96[ASN][1000 genomes]
rs11079782	0.87[ASN][1000 genomes]
rs11079783	0.83[EUR][1000 genomes]
rs11079784	0.96[ASN][1000 genomes]
rs1138193	0.87[ASN][1000 genomes]
rs11656855	0.96[ASN][1000 genomes]
rs11656856	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11871606	0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12936468	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12937560	0.82[ASN][1000 genomes]
rs12943464	0.95[ASN][1000 genomes]
rs1962307	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs34200664	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35919601	0.86[ASN][1000 genomes]
rs3760370	0.96[ASN][1000 genomes]
rs3760371	0.85[EUR][1000 genomes]
rs3809868	0.82[EUR][1000 genomes]
rs3865314	0.87[ASN][1000 genomes]
rs4092460	0.88[ASN][1000 genomes]
rs4239162	0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4239163	0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4289035	0.96[ASN][1000 genomes]
rs4399567	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4793836	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4793842	0.94[ASN][1000 genomes]
rs4793908	0.93[ASN][1000 genomes]
rs4793913	0.93[ASN][1000 genomes]
rs4793978	0.96[ASN][1000 genomes]
rs4794001	0.96[ASN][1000 genomes]
rs4794047	0.87[EUR][1000 genomes]
rs55633793	0.92[ASN][1000 genomes]
rs56226803	0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62074015	0.90[ASN][1000 genomes]
rs6503796	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6505048	0.80[EUR][1000 genomes]
rs6505049	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6505062	0.83[EUR][1000 genomes]
rs7207542	0.93[ASN][1000 genomes]
rs7210738	0.81[EUR][1000 genomes]
rs7214799	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7219303	0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7222225	0.84[EUR][1000 genomes]
rs7223029	0.96[ASN][1000 genomes]
rs73315878	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8072644	0.86[ASN][1000 genomes]
rs8075411	0.93[ASN][1000 genomes]
rs8078880	0.93[ASN][1000 genomes]
rs8082284	0.81[ASN][1000 genomes]
rs9635762	0.81[ASN][1000 genomes]
rs9635763	0.84[ASN][1000 genomes]
rs9891111	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9905922	0.82[EUR][1000 genomes];0.99[ASN][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:7)

SNP	Gene	Cis/trans	Tissue	Source
rs7213086	TBKBP1	cis	Nerve Tibial	GTEx
rs7213086	TBKBP1	cis	Whole Blood	GTEx
rs7213086	TBKBP1	cis	lung	GTEx
rs7213086	TBKBP1	cis	Artery Tibial	GTEx
rs7213086	TBKBP1	cis	Artery Aorta	GTEx
rs7213086	KPNB1	Cis_1M	lymphoblastoid	RTeQTL
rs7213086	TBKBP1	cis	Skin Sun Exposed Lower leg	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	chr17:45729800-45761600	Strong transcription	HSMM	muscle
8	chr17:45730400-45764800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr17:45730400-45765000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr17:45730800-45760600	Strong transcription	Lung	lung
11	chr17:45731000-45757600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr17:45731200-45762200	Strong transcription	Fetal Lung	lung
13	chr17:45731200-45763800	Strong transcription	K562	blood
14	chr17:45731400-45762000	Strong transcription	NH-A	brain
15	chr17:45732400-45753400	Weak transcription	Right Atrium	heart
16	chr17:45732400-45762600	Strong transcription	Sigmoid Colon	Sigmoid Colon
17	chr17:45732600-45760200	Strong transcription	Brain Germinal Matrix	brain
18	chr17:45732600-45760400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr17:45732600-45762000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr17:45732600-45762200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr17:45732800-45753200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr17:45732800-45760200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr17:45732800-45760600	Strong transcription	Fetal Intestine Large	intestine
24	chr17:45732800-45762200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr17:45732800-45762200	Strong transcription	Adipose Nuclei	Adipose
26	chr17:45732800-45762600	Strong transcription	Brain Anterior Caudate	brain
27	chr17:45733000-45759200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr17:45733000-45759400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr17:45733000-45761600	Strong transcription	HepG2	liver
30	chr17:45733000-45763600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr17:45733200-45760200	Strong transcription	Brain Cingulate Gyrus	brain
32	chr17:45733200-45760400	Strong transcription	Hela-S3	cervix
33	chr17:45733200-45762400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr17:45733200-45763400	Strong transcription	NHEK	skin
35	chr17:45733200-45765000	Strong transcription	HMEC	breast
36	chr17:45733800-45753200	Strong transcription	Skeletal Muscle Female	skeletal muscle
37	chr17:45735400-45757600	Strong transcription	HUVEC	blood vessel
38	chr17:45736200-45763600	Strong transcription	Dnd41	blood
39	chr17:45737000-45762400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr17:45737800-45762600	Strong transcription	Thymus	Thymus
41	chr17:45737800-45764200	Strong transcription	Duodenum Mucosa	Duodenum
42	chr17:45738000-45760200	Strong transcription	Rectal Smooth Muscle	rectum
43	chr17:45738000-45762600	Strong transcription	Duodenum Smooth Muscle	Duodenum
44	chr17:45738000-45763800	Strong transcription	Liver	Liver
45	chr17:45738400-45762800	Strong transcription	Rectal Mucosa Donor 29	rectum
46	chr17:45738400-45763600	Strong transcription	Rectal Mucosa Donor 31	rectum
47	chr17:45738400-45765600	Strong transcription	Primary T cells from cord blood	blood
48	chr17:45738600-45762600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr17:45738800-45762600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr17:45739000-45760400	Strong transcription	Ovary	ovary

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