Variant report

Variant	rs7940972
Chromosome Location	chr11:76691064-76691065
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:76686294..76687888-chr11:76690773..76692768,2	K562	blood:

Extended variants
information (count: 153 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:148)

rs_ID	r²[population]
rs10082568	0.81[EUR][1000 genomes]
rs10431154	0.81[EUR][1000 genomes]
rs10431181	0.81[EUR][1000 genomes]
rs10431182	0.81[EUR][1000 genomes]
rs10736811	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10736812	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10751263	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10751267	0.81[EUR][1000 genomes]
rs10751268	0.81[EUR][1000 genomes]
rs10751270	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10751271	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10793211	0.81[EUR][1000 genomes]
rs10793212	0.81[EUR][1000 genomes]
rs10793213	0.81[EUR][1000 genomes]
rs10793214	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10793215	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10793216	0.81[EUR][1000 genomes]
rs10793217	0.81[EUR][1000 genomes]
rs10793219	0.81[EUR][1000 genomes]
rs10793220	0.83[EUR][1000 genomes]
rs10793221	0.83[EUR][1000 genomes]
rs10793223	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10793224	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10793225	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10793226	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10793227	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10793228	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10793229	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10793230	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10793231	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10793232	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10899303	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10899307	0.81[AFR][1000 genomes]
rs10899327	0.81[EUR][1000 genomes]
rs10899328	0.81[EUR][1000 genomes]
rs10899329	0.81[EUR][1000 genomes]
rs10899330	0.81[EUR][1000 genomes]
rs10899332	0.81[EUR][1000 genomes]
rs10899333	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10899340	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10899341	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10899343	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10899344	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11237025	0.81[EUR][1000 genomes]
rs11237027	0.81[EUR][1000 genomes]
rs11237029	0.80[EUR][1000 genomes]
rs11237031	0.82[EUR][1000 genomes]
rs11237035	0.81[EUR][1000 genomes]
rs11237036	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11237052	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12222825	0.81[EUR][1000 genomes]
rs12223659	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12279946	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12286501	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12286600	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12807735	0.83[EUR][1000 genomes]
rs1356456	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1517906	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs1517907	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1517908	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1517909	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1517910	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1589126	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1607285	0.81[EUR][1000 genomes]
rs1607287	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1816748	0.81[AFR][1000 genomes]
rs1850544	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1878630	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1914599	0.81[EUR][1000 genomes]
rs1914600	0.81[EUR][1000 genomes]
rs1945083	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1945086	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1969315	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1973714	0.94[ASN][1000 genomes]
rs2090524	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2119458	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2156770	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2826	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3740764	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3740765	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3740767	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3781697	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3824889	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3851191	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3914687	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4145048	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4379869	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs4460836	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4944131	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4944132	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4944134	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4945124	0.81[EUR][1000 genomes]
rs4945125	0.81[EUR][1000 genomes]
rs4945127	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4945129	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4945131	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4945132	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4945133	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs591043	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6592678	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6592679	0.81[AFR][1000 genomes]
rs6592680	0.81[AFR][1000 genomes]
rs6592683	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6592684	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6592687	0.81[EUR][1000 genomes]
rs6592689	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6592690	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6592691	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6592692	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6592693	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6592694	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7103500	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7105694	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7107505	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7110305	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7110532	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7110849	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7113647	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7113778	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7119492	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7121273	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7121920	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7122736	0.83[EUR][1000 genomes]
rs7123496	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7123694	0.81[AFR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7123723	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7127936	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7128038	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7129147	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7129388	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7924613	0.90[ASN][1000 genomes]
rs7925135	0.90[ASN][1000 genomes]
rs7925652	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7925774	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7926122	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7926409	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7927367	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7927731	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7929837	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7931646	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7931869	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7931894	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7940782	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7942574	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7943913	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7950001	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs949339	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs949340	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519700	chr11:76637651-76709407	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1042924	chr11:76659477-76709407	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1040833	chr11:76667160-76709407	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv396	chr11:76670116-76702745	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv1802222	chr11:76683305-76709407	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:76660000-76710800	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr11:76666800-76695400	Weak transcription	NHEK	skin
3	chr11:76672200-76697800	Weak transcription	Left Ventricle	heart
4	chr11:76672400-76696000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr11:76674400-76696000	Weak transcription	Small Intestine	intestine
6	chr11:76675000-76691600	Weak transcription	Fetal Lung	lung
7	chr11:76675000-76721800	Weak transcription	Stomach Smooth Muscle	stomach
8	chr11:76675000-76725600	Weak transcription	A549	lung
9	chr11:76675000-76729600	Weak transcription	Brain Angular Gyrus	brain
10	chr11:76683000-76736400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr11:76683200-76729200	Weak transcription	Brain Hippocampus Middle	brain
12	chr11:76683600-76720400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr11:76683600-76728000	Weak transcription	Brain Anterior Caudate	brain
14	chr11:76684400-76699400	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr11:76687600-76691400	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr11:76688400-76695600	Weak transcription	HMEC	breast
17	chr11:76688600-76695600	Weak transcription	Stomach Mucosa	stomach
18	chr11:76688600-76710800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr11:76689200-76691200	Weak transcription	Colonic Mucosa	Colon
20	chr11:76689200-76696000	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr11:76689200-76734600	Weak transcription	Liver	Liver
22	chr11:76689400-76700600	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr11:76689400-76700800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr11:76689600-76701200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr11:76689600-76717800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr11:76689600-76737000	Weak transcription	Pancreas	Pancrea
27	chr11:76689800-76694800	Weak transcription	Fetal Brain Female	brain
28	chr11:76689800-76698000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr11:76689800-76699000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr11:76689800-76699400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr11:76689800-76704800	Weak transcription	Primary B cells from peripheral blood	blood
32	chr11:76689800-76708400	Weak transcription	Primary T cells from cord blood	blood
33	chr11:76689800-76731400	Weak transcription	Ovary	ovary
34	chr11:76690000-76691200	Enhancers	Duodenum Mucosa	Duodenum
35	chr11:76690000-76699800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr11:76690000-76706000	Weak transcription	Gastric	stomach
37	chr11:76690000-76709200	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr11:76690000-76718000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr11:76690000-76718600	Weak transcription	Primary B cells from cord blood	blood
40	chr11:76690000-76722000	Weak transcription	Aorta	Aorta
41	chr11:76690000-76723800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr11:76690000-76735800	Weak transcription	Rectal Smooth Muscle	rectum
43	chr11:76690200-76691400	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr11:76690200-76692600	Weak transcription	Psoas Muscle	Psoas
45	chr11:76690200-76693000	Enhancers	Fetal Intestine Large	intestine
46	chr11:76690200-76693800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr11:76690200-76695400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr11:76690200-76695800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr11:76690200-76696000	Weak transcription	Adipose Nuclei	Adipose
50	chr11:76690200-76696200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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