Variant report

Variant	rs9893410
Chromosome Location	chr17:45391015-45391016
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:45371857..45373419-chr17:45389135..45391339,2	K562	blood:
2	chr17:45386092..45388850-chr17:45390487..45392389,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11079772	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11650072	0.82[EUR][1000 genomes]
rs11658426	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12600865	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12948299	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1969267	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2271803	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2317677	0.82[EUR][1000 genomes]
rs34589418	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35161461	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35435669	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35983484	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3760372	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3809865	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4968314	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4968316	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6504833	0.82[EUR][1000 genomes]
rs6504836	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7214993	0.85[AMR][1000 genomes]
rs7216112	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7218813	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7221232	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7224753	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7225700	0.82[EUR][1000 genomes]
rs8075410	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9303534	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9894860	0.82[EUR][1000 genomes]
rs9899121	0.82[EUR][1000 genomes]

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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs9893410	TBKBP1	cis	lung	GTEx
rs9893410	TBKBP1	cis	Skin Sun Exposed Lower leg	GTEx
rs9893410	KPNB1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45357200-45398000	Weak transcription	Psoas Muscle	Psoas
2	chr17:45371400-45393000	Weak transcription	Dnd41	blood
3	chr17:45372400-45394400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr17:45374000-45392800	Weak transcription	Brain Substantia Nigra	brain
5	chr17:45380200-45392800	Weak transcription	Brain Hippocampus Middle	brain
6	chr17:45381400-45392600	Weak transcription	Liver	Liver
7	chr17:45381800-45392800	Weak transcription	Left Ventricle	heart
8	chr17:45382800-45394600	Weak transcription	Small Intestine	intestine
9	chr17:45382800-45400800	Weak transcription	Lung	lung
10	chr17:45383600-45392400	Weak transcription	Rectal Smooth Muscle	rectum
11	chr17:45383600-45392600	Weak transcription	Adipose Nuclei	Adipose
12	chr17:45383800-45391200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr17:45383800-45392000	Weak transcription	HSMM	muscle
14	chr17:45383800-45392000	Weak transcription	NH-A	brain
15	chr17:45383800-45392200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr17:45384000-45392000	Weak transcription	NHLF	lung
17	chr17:45385000-45391200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr17:45385000-45392600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr17:45385200-45392000	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr17:45385400-45391600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr17:45387800-45392600	Weak transcription	K562	blood
22	chr17:45387800-45392800	Weak transcription	Fetal Intestine Large	intestine
23	chr17:45388000-45392200	Weak transcription	Hela-S3	cervix
24	chr17:45388200-45392600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr17:45388200-45393000	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr17:45388400-45392200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr17:45388400-45392200	Weak transcription	NHDF-Ad	bronchial
28	chr17:45388400-45398000	Weak transcription	Fetal Muscle Trunk	muscle
29	chr17:45388600-45392600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr17:45388800-45391200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr17:45388800-45392000	Weak transcription	Osteobl	bone
32	chr17:45388800-45392200	Weak transcription	HSMMtube	muscle
33	chr17:45388800-45392600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr17:45388800-45400800	Weak transcription	Aorta	Aorta
35	chr17:45389000-45391400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr17:45389000-45392400	Weak transcription	Colon Smooth Muscle	Colon
37	chr17:45389000-45392800	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr17:45389200-45392800	Weak transcription	Fetal Stomach	stomach
39	chr17:45389400-45391800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr17:45389800-45392600	Weak transcription	Fetal Muscle Leg	muscle
41	chr17:45389800-45392800	Weak transcription	Stomach Smooth Muscle	stomach
42	chr17:45390000-45391200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr17:45390200-45392600	Weak transcription	Fetal Heart	heart
44	chr17:45390200-45392800	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr17:45390400-45393000	Weak transcription	Duodenum Mucosa	Duodenum
46	chr17:45390400-45393000	Enhancers	Placenta	Placenta
47	chr17:45390400-45394400	Enhancers	HUVEC	blood vessel
48	chr17:45391000-45391200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr17:45391000-45391600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr17:45391000-45391800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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