Variant report

Variant	rs4264433
Chromosome Location	chr17:45737275-45737276
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:45736747..45739364-chr17:45750041..45751842,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000108424	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10163469	0.81[EUR][1000 genomes]
rs10853090	0.87[EUR][1000 genomes]
rs11079784	0.85[EUR][1000 genomes]
rs11650372	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11656855	0.87[EUR][1000 genomes]
rs11870935	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11871606	0.89[EUR][1000 genomes]
rs12150231	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12943464	0.83[EUR][1000 genomes]
rs2317826	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3760370	0.84[EUR][1000 genomes]
rs3809868	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4239162	0.87[EUR][1000 genomes]
rs4239163	0.87[EUR][1000 genomes]
rs4289035	0.86[EUR][1000 genomes]
rs4375701	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4399567	0.88[EUR][1000 genomes]
rs4580230	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4793908	0.81[EUR][1000 genomes]
rs4793913	0.80[EUR][1000 genomes]
rs4793978	0.85[EUR][1000 genomes]
rs4794001	0.87[EUR][1000 genomes]
rs4794016	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4794048	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55633793	0.84[EUR][1000 genomes]
rs56226803	0.90[EUR][1000 genomes]
rs7207542	0.81[EUR][1000 genomes]
rs7210738	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7219303	0.90[EUR][1000 genomes]
rs7220935	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7223029	0.84[EUR][1000 genomes]
rs73315878	0.88[EUR][1000 genomes]
rs8065437	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8065669	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8072100	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8075411	0.82[EUR][1000 genomes]
rs8078686	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8078880	0.82[EUR][1000 genomes]
rs9905583	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9905922	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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
3	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
4	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
5	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
6	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

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs4264433	KPNB1	Cis_1M	lymphoblastoid	RTeQTL
rs4264433	MRPL45P2	cis	Muscle Skeletal	GTEx
rs4264433	TBKBP1	cis	Nerve Tibial	GTEx
rs4264433	TBKBP1	cis	Artery Tibial	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45728800-45742400	Strong transcription	H9 Cell Line	embryonic stem cell
2	chr17:45728800-45744600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr17:45728800-45762800	Strong transcription	Fetal Stomach	stomach
4	chr17:45728800-45765600	Strong transcription	Fetal Muscle Trunk	muscle
5	chr17:45729000-45743400	Strong transcription	Placenta Amnion	Placenta Amnion
6	chr17:45729200-45760400	Strong transcription	Fetal Muscle Leg	muscle
7	chr17:45729200-45760600	Strong transcription	Fetal Brain Female	brain
8	chr17:45729200-45763800	Strong transcription	Placenta	Placenta
9	chr17:45729400-45737400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
10	chr17:45729400-45741800	Strong transcription	H1 Cell Line	embryonic stem cell
11	chr17:45729600-45742200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr17:45729600-45762600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr17:45729800-45752000	Strong transcription	Left Ventricle	heart
14	chr17:45729800-45761600	Strong transcription	HSMM	muscle
15	chr17:45730000-45739600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr17:45730000-45740000	Strong transcription	Aorta	Aorta
17	chr17:45730000-45741000	Strong transcription	HSMMtube	muscle
18	chr17:45730000-45741600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
19	chr17:45730200-45741400	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr17:45730400-45737400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
21	chr17:45730400-45741600	Strong transcription	HUES6 Cell Line	embryonic stem cell
22	chr17:45730400-45764800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr17:45730400-45765000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr17:45730600-45741000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
25	chr17:45730600-45741800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr17:45730800-45760600	Strong transcription	Lung	lung
27	chr17:45731000-45757600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr17:45731200-45741000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
29	chr17:45731200-45762200	Strong transcription	Fetal Lung	lung
30	chr17:45731200-45763800	Strong transcription	K562	blood
31	chr17:45731400-45737400	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr17:45731400-45737600	Strong transcription	Duodenum Mucosa	Duodenum
33	chr17:45731400-45740800	Strong transcription	Fetal Kidney	kidney
34	chr17:45731400-45741600	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr17:45731400-45744600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr17:45731400-45762000	Strong transcription	NH-A	brain
37	chr17:45732200-45740000	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr17:45732400-45740800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr17:45732400-45743600	Strong transcription	NHDF-Ad	bronchial
40	chr17:45732400-45753400	Weak transcription	Right Atrium	heart
41	chr17:45732400-45762600	Strong transcription	Sigmoid Colon	Sigmoid Colon
42	chr17:45732600-45740800	Strong transcription	Cortex derived primary cultured neurospheres	brain
43	chr17:45732600-45743400	Strong transcription	NHLF	lung
44	chr17:45732600-45748400	Strong transcription	Muscle Satellite Cultured Cells	--
45	chr17:45732600-45760200	Strong transcription	Brain Germinal Matrix	brain
46	chr17:45732600-45760400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr17:45732600-45762000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr17:45732600-45762200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr17:45732800-45740800	Strong transcription	Brain Hippocampus Middle	brain
50	chr17:45732800-45742600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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