Variant report

Variant	rs11657517
Chromosome Location	chr17:45343713-45343714
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:45333610..45338031-chr17:45341654..45346712,6	K562	blood:
2	chr17:45342094..45343983-chr17:45358070..45360151,2	K562	blood:
3	chr17:45307528..45309683-chr17:45342784..45344582,2	K562	blood:
4	chr17:45317586..45319222-chr17:45343338..45346245,2	K562	blood:
5	chr17:45342339..45344820-chr17:45354708..45356639,2	K562	blood:

Variant related genes	Relation type
ENSG00000238419	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10514919	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.88[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11651904	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11656865	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11657963	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11658221	0.94[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11868894	0.93[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs11870620	0.95[ASN][1000 genomes]
rs12940207	0.86[ASN][1000 genomes]
rs12941431	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16941776	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16941780	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16941802	0.93[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs16941908	0.80[CHB][hapmap];0.84[JPT][hapmap]
rs1806687	0.85[AFR][1000 genomes]
rs2292863	0.80[EUR][1000 genomes]
rs2292864	0.93[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2292866	0.93[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs35265764	0.85[ASN][1000 genomes]
rs3785872	0.93[CHB][hapmap];1.00[JPT][hapmap]
rs3892085	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs4525555	0.82[TSI][hapmap]
rs4629024	0.82[TSI][hapmap]
rs4642	0.88[TSI][hapmap]
rs61131650	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62074423	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7217710	0.81[TSI][hapmap]
rs7219925	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8066295	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.88[TSI][hapmap];0.93[YRI][hapmap];0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8074094	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.88[TSI][hapmap];0.93[YRI][hapmap];0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8080254	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.88[TSI][hapmap];0.93[YRI][hapmap];0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs884696	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs999323	0.81[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:1 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11657517	TBKBP1	cis	multi-tissue	Pritchard

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45333200-45344600	Weak transcription	Stomach Smooth Muscle	stomach
2	chr17:45334000-45345800	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr17:45336000-45346800	Weak transcription	Fetal Heart	heart
4	chr17:45338000-45352200	Weak transcription	Fetal Muscle Leg	muscle
5	chr17:45339400-45345000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr17:45341000-45345000	Enhancers	K562	blood
7	chr17:45341400-45348800	Enhancers	NHDF-Ad	bronchial
8	chr17:45342000-45344400	Enhancers	HSMM	muscle
9	chr17:45342000-45345200	Enhancers	Small Intestine	intestine
10	chr17:45342600-45343800	Enhancers	Right Ventricle	heart
11	chr17:45342600-45344400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr17:45342600-45345000	Enhancers	Colon Smooth Muscle	Colon
13	chr17:45342600-45345800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr17:45342600-45345800	Enhancers	NHLF	lung
15	chr17:45342600-45346000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr17:45342600-45348400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr17:45342800-45343800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr17:45342800-45343800	Enhancers	Psoas Muscle	Psoas
19	chr17:45342800-45344400	Enhancers	Muscle Satellite Cultured Cells	--
20	chr17:45342800-45344400	Enhancers	Adipose Nuclei	Adipose
21	chr17:45342800-45344600	Enhancers	Rectal Smooth Muscle	rectum
22	chr17:45342800-45344800	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr17:45342800-45345000	Enhancers	HMEC	breast
24	chr17:45342800-45345000	Enhancers	HUVEC	blood vessel
25	chr17:45342800-45345000	Enhancers	NH-A	brain
26	chr17:45342800-45345200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr17:45342800-45345200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr17:45342800-45345600	Enhancers	Fetal Intestine Small	intestine
29	chr17:45342800-45346200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr17:45342800-45346200	Enhancers	Osteobl	bone
31	chr17:45343000-45346600	Enhancers	Fetal Intestine Large	intestine
32	chr17:45343200-45343800	Enhancers	HepG2	liver
33	chr17:45343200-45344000	Enhancers	Duodenum Mucosa	Duodenum
34	chr17:45343200-45344000	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr17:45343200-45344400	Enhancers	Left Ventricle	heart
36	chr17:45343200-45344800	Enhancers	Right Atrium	heart
37	chr17:45343200-45345200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr17:45343200-45345200	Enhancers	Hela-S3	cervix
39	chr17:45343200-45345200	Enhancers	HSMMtube	muscle
40	chr17:45343200-45345400	Enhancers	Duodenum Smooth Muscle	Duodenum
41	chr17:45343200-45345800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr17:45343400-45343800	Enhancers	Spleen	Spleen
43	chr17:45343400-45344000	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr17:45343400-45344800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr17:45343400-45345000	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr17:45343400-45345000	Enhancers	NHEK	skin
47	chr17:45343400-45345200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr17:45343400-45346200	Enhancers	Liver	Liver
49	chr17:45343600-45343800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
50	chr17:45343600-45343800	Enhancers	Pancreatic Islets	Pancreatic Islet

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