Variant report

Variant	rs72833480
Chromosome Location	chr17:45964861-45964862
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:45928046..45933138-chr17:45958246..45966286,8	K562	blood:
2	chr17:45962826..45965067-chr17:46029549..46031610,2	MCF-7	breast:
3	chr17:45914909..45922277-chr17:45964526..45971003,16	K562	blood:
4	chr17:45920242..45924382-chr17:45959879..45966158,9	MCF-7	breast:
5	chr17:45926244..45929145-chr17:45961186..45965001,5	MCF-7	breast:
6	chr17:45918850..45921918-chr17:45964837..45968341,4	K562	blood:
7	chr17:45957419..45959674-chr17:45964404..45967485,3	K562	blood:

Variant related genes	Relation type
ENSG00000141295	Chromatin interaction
ENSG00000189120	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11079800	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11079802	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11650395	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12942207	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16949418	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2325748	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs55822955	0.88[ASN][1000 genomes]
rs59811700	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8066574	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8079333	0.83[ASN][1000 genomes]
rs8182261	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498122	chr17:45763853-46064327	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv518892	chr17:45887951-46029432	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv908575	chr17:45957591-46049533	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs72833480	PNPO	cis	Nerve Tibial	GTEx

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45960000-45971800	Weak transcription	Rectal Smooth Muscle	rectum
2	chr17:45960000-45972200	Weak transcription	HUVEC	blood vessel
3	chr17:45960200-45965000	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr17:45960400-45972000	Weak transcription	Colon Smooth Muscle	Colon
5	chr17:45962200-45970800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr17:45962200-45971800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr17:45962600-45971200	Weak transcription	Gastric	stomach
8	chr17:45963000-45967200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr17:45963000-45971800	Weak transcription	Fetal Lung	lung
10	chr17:45963200-45965800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr17:45963200-45969200	Weak transcription	Stomach Mucosa	stomach
12	chr17:45963200-45971400	Weak transcription	Primary hematopoietic stem cells	blood
13	chr17:45963200-45971400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr17:45963400-45967200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr17:45963400-45967200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr17:45963400-45967600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr17:45963400-45971400	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr17:45963400-45971800	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr17:45963400-45971800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr17:45963400-45971800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr17:45963400-45972000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr17:45963400-45972200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr17:45963400-45972600	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr17:45963600-45965600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr17:45963600-45965600	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr17:45963600-45965800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr17:45963600-45965800	Weak transcription	K562	blood
28	chr17:45963600-45966000	Weak transcription	A549	lung
29	chr17:45963600-45967200	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr17:45963600-45967200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr17:45963600-45967200	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr17:45963600-45967600	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr17:45963600-45970800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr17:45963600-45971600	Weak transcription	Fetal Muscle Leg	muscle
35	chr17:45963600-45971800	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr17:45963600-45972000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr17:45963600-45972000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr17:45963600-45972200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr17:45963600-45972400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr17:45963800-45967200	Weak transcription	Fetal Thymus	thymus
41	chr17:45964200-45967200	Weak transcription	Fetal Intestine Small	intestine
42	chr17:45964200-45971200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr17:45964400-45966200	Weak transcription	Placenta	Placenta
44	chr17:45964400-45971800	Weak transcription	Duodenum Mucosa	Duodenum
45	chr17:45964400-45971800	Weak transcription	Fetal Intestine Large	intestine
46	chr17:45964600-45971600	Weak transcription	Skeletal Muscle Male	skeletal muscle

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