Variant report

Variant	rs8072100
Chromosome Location	chr17:45674687-45674688
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 90 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10163469	0.89[EUR][1000 genomes]
rs10853090	0.90[EUR][1000 genomes]
rs11079774	0.85[CEU][hapmap]
rs11079782	0.83[EUR][1000 genomes]
rs11079784	0.92[CEU][hapmap];0.92[EUR][1000 genomes]
rs11650372	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11656855	0.90[EUR][1000 genomes]
rs11870935	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11871606	0.92[CEU][hapmap];0.88[EUR][1000 genomes]
rs12150231	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12452315	1.00[CEU][hapmap];0.80[JPT][hapmap]
rs12452796	0.85[CEU][hapmap];0.84[JPT][hapmap]
rs12603290	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12936468	0.81[EUR][1000 genomes]
rs12937560	0.89[EUR][1000 genomes]
rs12943464	0.96[CEU][hapmap];0.94[EUR][1000 genomes]
rs16942199	1.00[CHB][hapmap];0.80[JPT][hapmap]
rs1912487	0.86[CEU][hapmap]
rs2175290	0.81[CEU][hapmap]
rs2317826	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35919601	0.84[EUR][1000 genomes]
rs3760370	0.92[CEU][hapmap];0.93[EUR][1000 genomes]
rs3809868	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3865314	0.81[EUR][1000 genomes]
rs4092460	0.86[EUR][1000 genomes]
rs4239162	0.92[CEU][hapmap];0.84[EUR][1000 genomes]
rs4239163	0.93[CEU][hapmap];0.84[EUR][1000 genomes]
rs4264433	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4289035	0.92[CEU][hapmap];0.91[EUR][1000 genomes]
rs4375701	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4399567	0.85[EUR][1000 genomes]
rs4439799	0.84[CEU][hapmap]
rs4580230	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4793842	0.88[CEU][hapmap];0.96[EUR][1000 genomes]
rs4793908	0.94[EUR][1000 genomes]
rs4793913	0.93[EUR][1000 genomes]
rs4793978	0.88[CEU][hapmap];0.92[EUR][1000 genomes]
rs4794001	0.92[CEU][hapmap];0.90[EUR][1000 genomes]
rs4794016	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4794047	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs4794048	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs4794058	0.92[CEU][hapmap]
rs55633793	0.87[EUR][1000 genomes]
rs56226803	0.87[EUR][1000 genomes]
rs62074014	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62074015	0.89[EUR][1000 genomes]
rs7207542	0.89[EUR][1000 genomes]
rs7210472	0.80[EUR][1000 genomes]
rs7210738	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7219303	0.87[EUR][1000 genomes]
rs7220935	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7223029	0.91[EUR][1000 genomes]
rs73315878	0.85[EUR][1000 genomes]
rs8065437	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8065669	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8070759	0.84[EUR][1000 genomes]
rs8072644	0.92[CEU][hapmap];0.82[EUR][1000 genomes]
rs8075411	0.92[CEU][hapmap];0.95[EUR][1000 genomes]
rs8077106	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8078686	0.96[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8078880	0.93[CEU][hapmap];0.95[EUR][1000 genomes]
rs8081717	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8082284	0.80[EUR][1000 genomes]
rs9635762	0.91[CEU][hapmap];0.82[EUR][1000 genomes]
rs9635763	0.82[EUR][1000 genomes]
rs9905581	0.85[CEU][hapmap]
rs9905583	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9905922	0.86[EUR][1000 genomes]
rs9911944	1.00[CEU][hapmap]
rs9912311	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs9915919	0.85[CEU][hapmap];0.80[JPT][hapmap]

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	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	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	nsv908570	chr17:45571502-45684651	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
13	esv1818529	chr17:45583088-45683095	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
14	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
15	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
16	esv1808701	chr17:45610793-45675401	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
17	esv1814312	chr17:45611212-45683095	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
18	esv1815163	chr17:45616653-45675272	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
19	esv1847040	chr17:45635179-45683095	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Very long-chain saturated fatty acid levels (fatty acid 20:0)	25378659	GWAS catalog

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs8072100	TBKBP1	cis	Nerve Tibial	GTEx
rs8072100	KPNB1	Cis_1M	lymphoblastoid	RTeQTL
rs8072100	TBKBP1	cis	Artery Tibial	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45610000-45676800	Weak transcription	Ovary	ovary
2	chr17:45611200-45674800	Weak transcription	Primary B cells from cord blood	blood
3	chr17:45637800-45678800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr17:45639600-45675000	Weak transcription	Brain Angular Gyrus	brain
5	chr17:45639800-45676800	Weak transcription	Brain Anterior Caudate	brain
6	chr17:45641000-45678000	Weak transcription	Brain Cingulate Gyrus	brain
7	chr17:45641400-45675000	Weak transcription	Primary hematopoietic stem cells	blood
8	chr17:45644200-45675200	Weak transcription	GM12878-XiMat	blood
9	chr17:45644400-45683800	Weak transcription	Spleen	Spleen
10	chr17:45645600-45678200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr17:45647800-45677000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr17:45647800-45684800	Weak transcription	Gastric	stomach
13	chr17:45649600-45675200	Weak transcription	Right Ventricle	heart
14	chr17:45657200-45688200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr17:45657800-45678800	Weak transcription	NHEK	skin
16	chr17:45659000-45676800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr17:45659200-45678600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr17:45659200-45698800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr17:45659600-45675000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr17:45662600-45689800	Weak transcription	Psoas Muscle	Psoas
21	chr17:45662800-45675800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr17:45663600-45677200	Weak transcription	Aorta	Aorta
23	chr17:45663800-45702800	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr17:45664000-45677000	Weak transcription	Fetal Lung	lung
25	chr17:45664800-45695000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr17:45665000-45677200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr17:45665000-45681000	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr17:45665600-45680600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr17:45665600-45686200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr17:45665600-45698200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr17:45665800-45677400	Weak transcription	Rectal Smooth Muscle	rectum
32	chr17:45666000-45694200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr17:45666200-45678200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr17:45666200-45688200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr17:45666400-45677000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr17:45666800-45687200	Strong transcription	Placenta	Placenta
37	chr17:45666800-45693600	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr17:45667000-45680800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr17:45667200-45681000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr17:45667200-45687400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr17:45667200-45698600	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr17:45667400-45682600	Strong transcription	Adipose Nuclei	Adipose
43	chr17:45667400-45685600	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr17:45667400-45687400	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr17:45667400-45687800	Strong transcription	Liver	Liver
46	chr17:45667400-45718200	Strong transcription	Primary neutrophils fromperipheralblood	blood
47	chr17:45668000-45675200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr17:45668200-45688400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
49	chr17:45668200-45699000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr17:45669200-45675600	Weak transcription	Brain Germinal Matrix	brain

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