Variant report

Variant	rs7207542
Chromosome Location	chr17:45697549-45697550
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:45695726..45697562-chr17:45698247..45700833,3	K562	blood:

Extended variants
information (count: 77 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10163469	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10853090	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11079782	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11079783	0.89[AFR][1000 genomes]
rs11079784	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1138193	0.87[ASN][1000 genomes]
rs11650372	0.90[EUR][1000 genomes]
rs11656855	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11870935	0.88[EUR][1000 genomes]
rs11871606	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12150231	0.90[EUR][1000 genomes]
rs12603290	0.82[EUR][1000 genomes]
rs12936468	0.84[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs12937560	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12943464	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2317826	0.88[EUR][1000 genomes]
rs35919601	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3760370	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3760371	0.89[AFR][1000 genomes]
rs3809868	0.85[EUR][1000 genomes]
rs3865314	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4092460	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4239162	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4239163	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4264433	0.81[EUR][1000 genomes]
rs4289035	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4375701	0.88[EUR][1000 genomes]
rs4399567	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4580230	0.86[EUR][1000 genomes]
rs4793836	0.90[ASN][1000 genomes]
rs4793842	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4793908	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4793913	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4793978	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4794001	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4794016	0.89[EUR][1000 genomes]
rs55633793	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56226803	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62074015	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6503796	0.84[ASN][1000 genomes]
rs6505048	0.83[AFR][1000 genomes]
rs6505049	0.83[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs7210738	0.84[EUR][1000 genomes]
rs7213086	0.93[ASN][1000 genomes]
rs7214799	0.90[AFR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7219303	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7220935	0.92[EUR][1000 genomes]
rs7222225	0.89[AFR][1000 genomes]
rs7223029	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73315878	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8065437	0.90[EUR][1000 genomes]
rs8065669	0.89[EUR][1000 genomes]
rs8070759	0.82[EUR][1000 genomes]
rs8072100	0.89[EUR][1000 genomes]
rs8072644	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8075411	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8077106	0.81[EUR][1000 genomes]
rs8078880	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8081717	0.81[EUR][1000 genomes]
rs8082284	0.81[ASN][1000 genomes]
rs9635762	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9635763	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9891111	0.97[ASN][1000 genomes]
rs9905583	0.87[EUR][1000 genomes]
rs9905922	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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	nsv516872	chr17:45419139-45702280	Strong transcription Genic enhancers Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv525267	chr17:45451894-45735706	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv469573	chr17:45511582-45698942	Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv471701	chr17:45511583-45698942	Genic enhancers Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	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
7	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
8	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
9	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
10	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
11	nsv471403	chr17:45608444-45700642	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
12	nsv482203	chr17:45608444-45700642	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7207542	TBKBP1	cis	Artery Tibial	GTEx
rs7207542	SCRN2	cis	lung	GTEx
rs7207542	TBKBP1	cis	Nerve Tibial	GTEx
rs7207542	KPNB1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45659200-45698800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr17:45663800-45702800	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr17:45665600-45698200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr17:45667200-45698600	Strong transcription	HUES64 Cell Line	embryonic stem cell
5	chr17:45667400-45718200	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr17:45668200-45699000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr17:45670000-45703000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr17:45670200-45698600	Weak transcription	Fetal Heart	heart
9	chr17:45670400-45698200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr17:45672400-45704200	Strong transcription	Fetal Muscle Trunk	muscle
11	chr17:45672600-45703000	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr17:45682200-45699000	Strong transcription	Fetal Muscle Leg	muscle
13	chr17:45682200-45699200	Weak transcription	Right Atrium	heart
14	chr17:45682800-45698800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr17:45682800-45702000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr17:45686800-45699400	Strong transcription	Fetal Intestine Small	intestine
17	chr17:45686800-45703400	Strong transcription	Fetal Stomach	stomach
18	chr17:45687600-45701400	Strong transcription	Sigmoid Colon	Sigmoid Colon
19	chr17:45688000-45701600	Strong transcription	Primary T cells from cord blood	blood
20	chr17:45688600-45701400	Strong transcription	Dnd41	blood
21	chr17:45688800-45701600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr17:45688800-45702400	Strong transcription	Duodenum Mucosa	Duodenum
23	chr17:45688800-45702400	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr17:45688800-45703000	Strong transcription	Placenta	Placenta
25	chr17:45689000-45698400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr17:45689000-45703000	Strong transcription	Fetal Thymus	thymus
27	chr17:45689200-45698200	Weak transcription	Pancreas	Pancrea
28	chr17:45689200-45707800	Weak transcription	Gastric	stomach
29	chr17:45689400-45698800	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr17:45689400-45698800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr17:45689400-45700400	Strong transcription	HepG2	liver
32	chr17:45689400-45701800	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr17:45689600-45697800	Strong transcription	Muscle Satellite Cultured Cells	--
34	chr17:45689600-45698000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr17:45689800-45697800	Weak transcription	Stomach Mucosa	stomach
36	chr17:45689800-45698000	Strong transcription	Osteobl	bone
37	chr17:45689800-45698200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr17:45690000-45697600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr17:45690400-45702000	Strong transcription	Fetal Intestine Large	intestine
40	chr17:45691600-45700200	Weak transcription	Esophagus	oesophagus
41	chr17:45691800-45698200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr17:45691800-45716600	Weak transcription	Right Ventricle	heart
43	chr17:45692800-45698800	Strong transcription	Colonic Mucosa	Colon
44	chr17:45692800-45714600	Weak transcription	Aorta	Aorta
45	chr17:45693000-45698000	Strong transcription	NH-A	brain
46	chr17:45693400-45697600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr17:45694000-45698600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr17:45694400-45699000	Strong transcription	H1 Cell Line	embryonic stem cell
49	chr17:45694400-45701400	Strong transcription	Primary B cells from cord blood	blood
50	chr17:45694400-45701400	Strong transcription	Rectal Mucosa Donor 31	rectum

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