Variant report

Variant	rs2692110
Chromosome Location	chr7:63811373-63811374
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:63811280-63811832	GM12891	blood:	n/a	n/a
2	POLR2A	chr7:63811153-63812392	GM12892	blood:	n/a	n/a
3	POLR2A	chr7:63811086-63812558	GM12892	blood:	n/a	n/a
4	POLR2A	chr7:63811244-63814133	K562	blood:	n/a	n/a
5	POLR2A	chr7:63811198-63812646	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:63810767..63813446-chr7:63828000..63830208,2	K562	blood:

Variant related genes	Relation type
TRIM60P18	TF binding region

Extended variants
information (count: 106 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs11763268	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs11764145	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs11764842	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs11765236	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs12672662	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs2082661	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs2091267	0.89[ASN][1000 genomes]
rs2618262	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34764583	1.00[CHB][hapmap];0.85[CHD][hapmap];0.89[JPT][hapmap]
rs4562194	0.92[ASN][1000 genomes]
rs581612	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs583281	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs587711	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs590890	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs599238	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs600417	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs600443	1.00[ASN][1000 genomes]
rs602605	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs605615	1.00[ASN][1000 genomes]
rs607988	1.00[ASN][1000 genomes]
rs610780	1.00[ASN][1000 genomes]
rs615957	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs616074	0.87[ASN][1000 genomes]
rs618757	0.91[ASN][1000 genomes]
rs620631	1.00[ASN][1000 genomes]
rs623717	0.98[ASN][1000 genomes]
rs624320	0.98[ASN][1000 genomes]
rs62461462	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62463881	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62463883	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62463885	0.87[EUR][1000 genomes]
rs62463886	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62463887	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62463900	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62463907	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62463909	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62463910	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs628142	0.92[ASN][1000 genomes]
rs628388	1.00[ASN][1000 genomes]
rs630324	0.92[ASN][1000 genomes]
rs630376	0.96[ASN][1000 genomes]
rs633702	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs636404	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs636413	1.00[ASN][1000 genomes]
rs639274	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs641215	1.00[ASN][1000 genomes]
rs641310	1.00[ASN][1000 genomes]
rs642158	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs642524	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs657683	0.89[ASN][1000 genomes]
rs659055	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs659604	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs661173	1.00[ASN][1000 genomes]
rs662978	1.00[ASN][1000 genomes]
rs663869	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs664631	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs673182	0.82[ASN][1000 genomes]
rs676535	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs682158	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs682587	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs684437	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs685617	1.00[ASN][1000 genomes]
rs686236	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs686539	0.96[ASN][1000 genomes]
rs687484	1.00[ASN][1000 genomes]
rs688262	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6976217	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs6977201	1.00[CHB][hapmap];0.85[CHD][hapmap];0.89[JPT][hapmap]
rs776294	1.00[ASN][1000 genomes]
rs776295	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs776298	1.00[ASN][1000 genomes]
rs7785818	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs7806288	1.00[CHB][hapmap];0.81[CHD][hapmap];0.89[JPT][hapmap]
rs9647726	1.00[ASN][1000 genomes]
rs9918511	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs9918574	1.00[CHB][hapmap];0.89[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv888255	chr7:63175168-63990100	Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
2	nsv534361	chr7:63328472-63955286	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
3	nsv888259	chr7:63363001-64009193	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
4	nsv464514	chr7:63383123-63847894	Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
5	nsv607304	chr7:63383123-63847894	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
6	nsv1016466	chr7:63438466-63969492	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
7	nsv522412	chr7:63599625-63889709	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	esv3440559	chr7:63610519-63904964	ZNF genes & repeats Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	esv3491487	chr7:63610542-63904912	Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	esv3491488	chr7:63610542-63904912	Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	esv3422236	chr7:63610554-63907181	Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
12	nsv1018858	chr7:63610707-63903255	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
13	nsv1032542	chr7:63617828-63898016	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
14	nsv538891	chr7:63617828-63898016	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
15	nsv429759	chr7:63662150-64110550	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
16	nsv429760	chr7:63687850-64110550	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
17	esv2422405	chr7:63709739-64632341	Enhancers Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
18	nsv427787	chr7:63741770-64419520	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
19	nsv429761	chr7:63747498-64096138	Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
20	nsv888269	chr7:63758482-63866003	Weak transcription ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
21	nsv482324	chr7:63764660-63934144	ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
22	esv2764000	chr7:63766980-64275251	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
23	esv1804676	chr7:63779013-63819849	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
24	esv1822387	chr7:63785789-63840059	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
25	nsv429762	chr7:63790450-64110550	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
26	nsv966818	chr7:63796428-63820810	ZNF genes & repeats Weak transcription Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
27	esv1812417	chr7:63800687-63861764	ZNF genes & repeats Weak transcription Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
28	nsv888270	chr7:63803016-63866003	Weak transcription ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
29	esv1831864	chr7:63803986-63846851	ZNF genes & repeats Weak transcription Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
30	nsv518721	chr7:63806819-63813888	ZNF genes & repeats Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:63776600-63817800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr7:63788000-63812800	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
3	chr7:63790200-63816600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr7:63790200-63820200	ZNF genes & repeats	Adipose Nuclei	Adipose
5	chr7:63790200-63826600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr7:63795200-63814000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
7	chr7:63795400-63813800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:63795400-63814600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
9	chr7:63795600-63813400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
10	chr7:63795800-63813600	ZNF genes & repeats	Dnd41	blood
11	chr7:63795800-63814200	ZNF genes & repeats	Primary B cells from cord blood	blood
12	chr7:63796800-63814200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr7:63797200-63812400	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr7:63797200-63814200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
15	chr7:63798600-63813600	ZNF genes & repeats	Liver	Liver
16	chr7:63799800-63812600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
17	chr7:63801200-63818800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr7:63803400-63813200	ZNF genes & repeats	Brain Anterior Caudate	brain
19	chr7:63803800-63813800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
20	chr7:63806400-63812000	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
21	chr7:63807400-63813200	ZNF genes & repeats	Brain Angular Gyrus	brain
22	chr7:63807400-63815600	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
23	chr7:63807600-63812400	ZNF genes & repeats	Brain Cingulate Gyrus	brain
24	chr7:63807600-63813200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr7:63807600-63813400	ZNF genes & repeats	Ovary	ovary
26	chr7:63807600-63813400	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
27	chr7:63807600-63813600	ZNF genes & repeats	Fetal Lung	lung
28	chr7:63807600-63814200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
29	chr7:63807600-63814200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
30	chr7:63807800-63812600	ZNF genes & repeats	Fetal Brain Female	brain
31	chr7:63807800-63813000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr7:63807800-63813200	ZNF genes & repeats	Brain Substantia Nigra	brain
33	chr7:63807800-63813600	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
34	chr7:63807800-63814000	ZNF genes & repeats	Brain Hippocampus Middle	brain
35	chr7:63808200-63813400	ZNF genes & repeats	Colon Smooth Muscle	Colon
36	chr7:63809600-63813400	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
37	chr7:63810400-63812200	ZNF genes & repeats	Right Ventricle	heart
38	chr7:63810600-63811400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
39	chr7:63811000-63812600	ZNF genes & repeats	Colonic Mucosa	Colon
40	chr7:63811000-63813600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr7:63811000-63813600	ZNF genes & repeats	Fetal Intestine Small	intestine
42	chr7:63811200-63812800	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
43	chr7:63811200-63813400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
44	chr7:63811200-63813400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr7:63811200-63813400	ZNF genes & repeats	Brain Germinal Matrix	brain
46	chr7:63811200-63813400	ZNF genes & repeats	Esophagus	oesophagus
47	chr7:63811200-63813400	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
48	chr7:63811200-63813400	ZNF genes & repeats	Thymus	Thymus
49	chr7:63811200-63813600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
50	chr7:63811200-63813600	ZNF genes & repeats	Pancreas	Pancrea

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