Variant report

Variant	rs1221385
Chromosome Location	chr17:45527574-45527575
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11079776	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11651643	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11651766	0.81[ASN][1000 genomes]
rs1912484	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1912485	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1912486	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2136749	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2136750	0.85[EUR][1000 genomes]
rs2292346	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3736438	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3851808	0.83[EUR][1000 genomes]
rs3871595	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4114873	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4968228	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4968257	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4968259	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4968318	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57427906	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7221224	0.82[EUR][1000 genomes]
rs8074451	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8075058	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8075843	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8079142	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9807106	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9894594	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9895509	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9895776	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9899859	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9900123	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9903100	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9904967	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9905073	0.85[EUR][1000 genomes]
rs9908049	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9913014	0.82[EUR][1000 genomes]
rs9913206	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9915222	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 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	nsv470590	chr17:45419138-45547077	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv457821	chr17:45419139-45547078	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv575462	chr17:45419139-45547078	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	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
6	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
7	nsv908566	chr17:45465735-45569714	Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	esv1806110	chr17:45477544-45673592	Weak transcription Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv908568	chr17:45506682-45590420	Enhancers Weak transcription Strong transcription 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	4 gene(s)	inside rSNPs	diseases
10	nsv833468	chr17:45511563-45683164	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	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
12	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
13	esv1793478	chr17:45518444-45671051	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
14	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
15	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
16	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
17	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
18	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
19	nsv960557	chr17:45524102-45529292	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs1221385	TBKBP1	cis	Skin Sun Exposed Lower leg	GTEx
rs1221385	KPNB1	Cis_1M	lymphoblastoid	RTeQTL
rs1221385	TBKBP1	cis	Artery Tibial	GTEx
rs1221385	TBKBP1	cis	Nerve Tibial	GTEx
rs1221385	TBKBP1	cis	lung	GTEx

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45501400-45554200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr17:45501400-45554400	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr17:45501600-45555400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr17:45501600-45556400	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr17:45501800-45533400	Weak transcription	Gastric	stomach
6	chr17:45501800-45547400	Weak transcription	Fetal Muscle Trunk	muscle
7	chr17:45501800-45550200	Weak transcription	Ovary	ovary
8	chr17:45502200-45548000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr17:45502800-45548600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr17:45503200-45545400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr17:45505200-45550200	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr17:45507200-45555000	Weak transcription	Fetal Thymus	thymus
13	chr17:45507600-45554200	Weak transcription	Left Ventricle	heart
14	chr17:45509400-45527800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr17:45509600-45527800	Weak transcription	Fetal Stomach	stomach
16	chr17:45512200-45530400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr17:45512200-45530800	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr17:45512200-45550200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr17:45513000-45544000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr17:45513400-45545400	Weak transcription	Liver	Liver
21	chr17:45514000-45530200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr17:45515400-45551600	Weak transcription	Fetal Intestine Large	intestine
23	chr17:45515600-45554200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr17:45515800-45531800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr17:45516000-45556400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr17:45516200-45531800	Weak transcription	Esophagus	oesophagus
27	chr17:45516800-45553200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr17:45517000-45550600	Weak transcription	Adipose Nuclei	Adipose
29	chr17:45517200-45547600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr17:45517400-45547400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr17:45517600-45530200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr17:45517600-45550200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr17:45518000-45568800	Weak transcription	K562	blood
34	chr17:45518200-45554200	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr17:45518400-45545800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr17:45518400-45550200	Weak transcription	Lung	lung
37	chr17:45518600-45569200	Weak transcription	Brain Anterior Caudate	brain
38	chr17:45518800-45530200	Weak transcription	Fetal Muscle Leg	muscle
39	chr17:45519000-45545400	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr17:45519000-45551600	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr17:45519400-45569400	Weak transcription	Primary B cells from peripheral blood	blood
42	chr17:45519600-45550200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr17:45519800-45555000	Weak transcription	Thymus	Thymus
44	chr17:45520000-45542400	Weak transcription	Fetal Lung	lung
45	chr17:45520000-45550600	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr17:45520200-45530600	Weak transcription	Primary T cells from cord blood	blood
47	chr17:45520200-45549200	Weak transcription	HepG2	liver
48	chr17:45520800-45534000	Weak transcription	Primary hematopoietic stem cells	blood
49	chr17:45521000-45530600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr17:45521000-45547200	Weak transcription	HUES48 Cell Line	embryonic stem cell

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