Variant report

Variant	rs4968316
Chromosome Location	chr17:45400463-45400464
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF12	chr17:45400459-45402688	A549	lung:	n/a	n/a
2	POLR2A	chr17:45400376-45401573	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:45334238..45336850-chr17:45399681..45401766,2	K562	blood:
2	chr17:45234199..45236994-chr17:45399820..45401734,2	MCF-7	breast:
3	chr17:45399600..45403116-chr17:45404916..45409576,7	K562	blood:
4	chr17:45143352..45144907-chr17:45399301..45401186,2	K562	blood:
5	chr17:45382065..45383991-chr17:45399117..45400961,2	K562	blood:
6	chr17:45143352..45146051-chr17:45399301..45401762,3	K562	blood:

No data

Variant related genes	Relation type
EFCAB13	TF binding region
ENSG00000262879	Chromatin interaction
ENSG00000004897	Chromatin interaction
ENSG00000263293	Chromatin interaction
ENSG00000178852	Chromatin interaction
ENSG00000238419	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11079772	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11650072	0.80[EUR][1000 genomes]
rs11658426	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12600865	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12948299	0.80[EUR][1000 genomes]
rs1969267	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2271803	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2317677	0.81[EUR][1000 genomes]
rs34589418	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35161461	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35435669	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35983484	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3760372	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3809865	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4968314	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6504833	0.80[EUR][1000 genomes]
rs6504836	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7218813	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7221232	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7224753	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7225700	0.81[EUR][1000 genomes]
rs8075410	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9303534	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9893410	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9894860	0.81[EUR][1000 genomes]
rs9899121	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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	nsv962445	chr17:45397004-45428018	Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs4968316	TBKBP1	cis	Skin Sun Exposed Lower leg	GTEx
rs4968316	TBKBP1	cis	lung	GTEx
rs4968316	KPNB1	Cis_1M	lymphoblastoid	RTeQTL
rs4968316	TBKBP1	cis	Whole Blood	GTEx

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45382800-45400800	Weak transcription	Lung	lung
2	chr17:45388800-45400800	Weak transcription	Aorta	Aorta
3	chr17:45391200-45400800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr17:45393000-45400600	Weak transcription	Brain Angular Gyrus	brain
5	chr17:45393200-45400600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr17:45393200-45400600	Weak transcription	Colon Smooth Muscle	Colon
7	chr17:45393200-45400600	Weak transcription	Fetal Heart	heart
8	chr17:45393200-45400600	Weak transcription	Pancreas	Pancrea
9	chr17:45394200-45400600	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr17:45394200-45400600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr17:45394800-45400600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr17:45394800-45400600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr17:45395200-45400600	Weak transcription	Fetal Intestine Small	intestine
14	chr17:45395200-45400600	Weak transcription	Osteobl	bone
15	chr17:45396200-45400600	Weak transcription	HSMMtube	muscle
16	chr17:45398400-45400600	Weak transcription	Fetal Stomach	stomach
17	chr17:45398800-45400600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr17:45398800-45400600	Weak transcription	Fetal Muscle Leg	muscle
19	chr17:45399200-45400600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr17:45399400-45400800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr17:45399800-45400600	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr17:45399800-45400600	Enhancers	Hela-S3	cervix
23	chr17:45400000-45400600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr17:45400000-45402400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr17:45400200-45400600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr17:45400200-45400600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr17:45400200-45400600	Enhancers	Liver	Liver
28	chr17:45400200-45400600	Active TSS	Rectal Mucosa Donor 31	rectum
29	chr17:45400200-45400800	Enhancers	Sigmoid Colon	Sigmoid Colon
30	chr17:45400200-45401000	Flanking Active TSS	HepG2	liver
31	chr17:45400200-45401000	Flanking Active TSS	HUVEC	blood vessel
32	chr17:45400200-45401600	Active TSS	K562	blood
33	chr17:45400400-45400600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr17:45400400-45400600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
35	chr17:45400400-45400600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr17:45400400-45400600	Enhancers	Primary neutrophils fromperipheralblood	blood
37	chr17:45400400-45400600	Enhancers	Primary B cells from peripheral blood	blood
38	chr17:45400400-45400600	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr17:45400400-45400600	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr17:45400400-45400600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr17:45400400-45400600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr17:45400400-45400600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr17:45400400-45400600	Active TSS	Muscle Satellite Cultured Cells	--
44	chr17:45400400-45400600	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr17:45400400-45400600	Enhancers	Dnd41	blood
46	chr17:45400400-45400600	Enhancers	NH-A	brain
47	chr17:45400400-45400800	Flanking Active TSS	Duodenum Mucosa	Duodenum
48	chr17:45400400-45400800	Flanking Active TSS	NHDF-Ad	bronchial
49	chr17:45400400-45401000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr17:45400400-45401400	Active TSS	Adipose Nuclei	Adipose

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