Variant report

Variant	rs4511484
Chromosome Location	chr15:72314545-72314546
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 127 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:113)

rs_ID	r²[population]
rs11072341	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11072343	0.90[ASN][1000 genomes]
rs11072344	0.87[ASN][1000 genomes]
rs11072348	1.00[ASW][hapmap];0.97[LWK][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap]
rs1120002	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11856068	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12437582	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12438532	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12439689	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12439773	0.82[EUR][1000 genomes]
rs12440204	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[ASN][1000 genomes]
rs12440299	0.92[ASN][1000 genomes]
rs12441246	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs12441470	0.96[ASN][1000 genomes]
rs12441567	0.96[ASN][1000 genomes]
rs12441622	0.96[ASN][1000 genomes]
rs12442680	0.86[ASN][1000 genomes]
rs12443127	0.96[ASN][1000 genomes]
rs12592615	0.88[ASN][1000 genomes]
rs12592806	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12592858	0.82[ASN][1000 genomes]
rs12592932	0.82[ASN][1000 genomes]
rs12592969	0.88[ASN][1000 genomes]
rs12593082	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs12593857	0.96[ASN][1000 genomes]
rs12593946	0.96[ASN][1000 genomes]
rs12903688	1.00[ASW][hapmap];0.97[LWK][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap]
rs1457030	1.00[ASW][hapmap];0.97[LWK][hapmap];0.82[MKK][hapmap];1.00[YRI][hapmap]
rs1471688	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1545825	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1598714	0.87[AFR][1000 genomes]
rs16953747	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16953770	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs16956539	0.96[ASN][1000 genomes]
rs16956599	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[ASN][1000 genomes]
rs16956602	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[ASN][1000 genomes]
rs1805020	0.86[EUR][1000 genomes]
rs1805021	0.86[EUR][1000 genomes]
rs1871834	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1905337	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1979459	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2277544	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs2291279	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2305705	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2306575	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2415125	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2415129	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2415131	1.00[ASW][hapmap];0.91[MKK][hapmap]
rs2723357	0.81[AFR][1000 genomes]
rs2742321	0.81[AFR][1000 genomes]
rs28397923	0.86[ASN][1000 genomes]
rs28639924	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28653163	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28658271	0.82[EUR][1000 genomes]
rs28701834	0.96[ASN][1000 genomes]
rs2899774	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2929514	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2929515	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2929521	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2929522	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2929524	0.94[ASN][1000 genomes]
rs2929530	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2929531	1.00[ASW][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2929533	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2957367	0.87[AFR][1000 genomes]
rs2957369	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2957726	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2957729	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2957730	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2957733	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2957741	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2957747	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2957748	0.91[ASN][1000 genomes]
rs2957749	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2957751	0.84[AFR][1000 genomes]
rs2957752	0.84[AFR][1000 genomes]
rs34625473	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[ASN][1000 genomes]
rs35696756	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35773391	0.96[ASN][1000 genomes]
rs3809505	0.88[ASN][1000 genomes]
rs3825869	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4238451	1.00[ASW][hapmap];0.97[LWK][hapmap];0.88[MKK][hapmap];1.00[YRI][hapmap]
rs4776583	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4777472	0.88[ASN][1000 genomes]
rs4777479	0.89[ASN][1000 genomes]
rs4777487	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs4777493	0.90[YRI][hapmap]
rs6494976	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6494987	0.89[AFR][1000 genomes]
rs6494988	0.81[AFR][1000 genomes]
rs6494989	0.83[AFR][1000 genomes]
rs7162134	0.88[ASN][1000 genomes]
rs7164646	0.96[ASN][1000 genomes]
rs7170173	1.00[ASW][hapmap];0.97[LWK][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap]
rs7171097	1.00[YRI][hapmap]
rs7171446	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[ASN][1000 genomes]
rs7172281	0.85[AMR][1000 genomes]
rs7173532	1.00[ASW][hapmap];0.97[LWK][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap]
rs7175907	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7178613	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[ASN][1000 genomes]
rs7180934	1.00[ASW][hapmap];0.97[LWK][hapmap];0.88[MKK][hapmap];1.00[YRI][hapmap]
rs8026894	1.00[CEU][hapmap];0.80[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs8029218	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.82[ASN][1000 genomes]
rs8031658	0.87[AFR][1000 genomes]
rs8032957	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8033997	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8034436	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8034722	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8039245	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs8182066	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs930871	1.00[ASW][hapmap];0.97[LWK][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap]
rs981695	1.00[CEU][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9920148	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3331306	chr15:72049818-72427559	Strong transcription ZNF genes & repeats Active TSS Weak transcription Enhancers 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 miRNA target site	34 gene(s)	inside rSNPs	diseases
2	esv3433206	chr15:72049838-72427529	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv516871	chr15:72126034-72325595	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv1042740	chr15:72128799-72482239	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	nsv542426	chr15:72128799-72482239	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv904336	chr15:72145937-72329906	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
7	nsv457198	chr15:72203517-72325595	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv569912	chr15:72203517-72325595	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv457200	chr15:72261385-72325595	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv569914	chr15:72261385-72325595	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv431395	chr15:72266174-72701777	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats 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 target site	144 gene(s)	inside rSNPs	diseases
12	nsv569916	chr15:72268986-72325595	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv457201	chr15:72284647-72329906	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv569917	chr15:72284647-72329906	ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72226800-72343600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr15:72227800-72326200	Weak transcription	Fetal Brain Male	brain
3	chr15:72261000-72326200	Weak transcription	NH-A	brain
4	chr15:72266400-72323000	Weak transcription	Lung	lung
5	chr15:72266600-72315000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr15:72272000-72323200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr15:72277200-72325800	Weak transcription	Fetal Heart	heart
8	chr15:72280200-72338800	Weak transcription	Hela-S3	cervix
9	chr15:72280800-72318200	Weak transcription	Pancreas	Pancrea
10	chr15:72282000-72341800	Weak transcription	Brain Angular Gyrus	brain
11	chr15:72282200-72337800	Weak transcription	Esophagus	oesophagus
12	chr15:72282200-72338800	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr15:72282400-72325800	Weak transcription	Rectal Smooth Muscle	rectum
14	chr15:72282400-72326200	Weak transcription	Fetal Brain Female	brain
15	chr15:72282400-72329000	Weak transcription	Brain Germinal Matrix	brain
16	chr15:72282600-72315800	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr15:72282600-72332000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr15:72282800-72323000	Weak transcription	Thymus	Thymus
19	chr15:72282800-72325800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr15:72282800-72347000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr15:72282800-72349800	Weak transcription	Brain Hippocampus Middle	brain
22	chr15:72283600-72329600	Weak transcription	Duodenum Mucosa	Duodenum
23	chr15:72284200-72326400	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr15:72288400-72314800	Strong transcription	Placenta	Placenta
25	chr15:72289200-72337800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr15:72290000-72316600	Weak transcription	Fetal Stomach	stomach
27	chr15:72291000-72325800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr15:72291800-72323200	Weak transcription	Colon Smooth Muscle	Colon
29	chr15:72292200-72338200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr15:72292400-72326000	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr15:72295400-72337800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr15:72298400-72344000	Weak transcription	Spleen	Spleen
33	chr15:72298600-72315000	Weak transcription	Fetal Intestine Small	intestine
34	chr15:72298800-72325400	Weak transcription	Left Ventricle	heart
35	chr15:72299400-72315600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr15:72299400-72325600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr15:72299400-72326000	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr15:72299400-72329000	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr15:72299600-72329600	Weak transcription	Primary B cells from cord blood	blood
40	chr15:72299800-72321600	Weak transcription	Primary hematopoietic stem cells	blood
41	chr15:72300000-72326000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr15:72300000-72326400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr15:72300000-72329200	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr15:72300000-72338000	Weak transcription	Stomach Smooth Muscle	stomach
45	chr15:72300000-72351000	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr15:72300200-72319800	Weak transcription	HSMMtube	muscle
47	chr15:72300200-72341800	Weak transcription	Brain Substantia Nigra	brain
48	chr15:72300400-72323200	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr15:72300400-72338200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr15:72300600-72338000	Weak transcription	Liver	Liver

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